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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: 6-12124354-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12124354&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 12124354,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000379388.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "NM_002114.4",
"protein_id": "NP_002105.3",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 4917,
"cdna_end": null,
"cdna_length": 9053,
"mane_select": "ENST00000379388.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "ENST00000379388.7",
"protein_id": "ENSP00000368698.2",
"transcript_support_level": 1,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 4917,
"cdna_end": null,
"cdna_length": 9053,
"mane_select": "NM_002114.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "ENST00000478545.2",
"protein_id": "ENSP00000418021.2",
"transcript_support_level": 4,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 4750,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "ENST00000487103.6",
"protein_id": "ENSP00000417348.2",
"transcript_support_level": 2,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 4717,
"cdna_end": null,
"cdna_length": 8853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "ENST00000491710.6",
"protein_id": "ENSP00000419762.2",
"transcript_support_level": 3,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 8912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "ENST00000627968.3",
"protein_id": "ENSP00000486543.2",
"transcript_support_level": 5,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2684,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8055,
"cdna_start": 4891,
"cdna_end": null,
"cdna_length": 8924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "ENST00000714231.1",
"protein_id": "ENSP00000519512.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 2516,
"cds_start": 3953,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 4723,
"cdna_end": null,
"cdna_length": 8843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "ENST00000714232.1",
"protein_id": "ENSP00000519513.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 2516,
"cds_start": 3953,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 4806,
"cdna_end": null,
"cdna_length": 8942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4586C>G",
"hgvs_p": "p.Ala1529Gly",
"transcript": "XM_011514548.3",
"protein_id": "XP_011512850.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 2727,
"cds_start": 4586,
"cds_end": null,
"cds_length": 8184,
"cdna_start": 5130,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_011514552.3",
"protein_id": "XP_011512854.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_011514553.2",
"protein_id": "XP_011512855.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
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"cdna_start": 4797,
"cdna_end": null,
"cdna_length": 8933,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418697.1",
"protein_id": "XP_047274653.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
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"cdna_start": 4777,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418698.1",
"protein_id": "XP_047274654.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2718,
"cds_start": 4559,
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"cdna_start": 4716,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418699.1",
"protein_id": "XP_047274655.1",
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"feature": null
},
{
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"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418700.1",
"protein_id": "XP_047274656.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
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"cdna_start": 4959,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4526C>G",
"hgvs_p": "p.Ala1509Gly",
"transcript": "XM_011514555.4",
"protein_id": "XP_011512857.1",
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"aa_end": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4586C>G",
"hgvs_p": "p.Ala1529Gly",
"transcript": "XM_047418701.1",
"protein_id": "XP_047274657.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 2693,
"cds_start": 4586,
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"cdna_length": 9543,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418702.1",
"protein_id": "XP_047274658.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
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"cds_start": 4559,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418703.1",
"protein_id": "XP_047274659.1",
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},
{
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"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": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.3953C>G",
"hgvs_p": "p.Ala1318Gly",
"transcript": "XM_047418704.1",
"protein_id": "XP_047274660.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4586C>G",
"hgvs_p": "p.Ala1529Gly",
"transcript": "XM_047418705.1",
"protein_id": "XP_047274661.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 2035,
"cds_start": 4586,
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"cdna_start": 5509,
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"cdna_length": 7202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly",
"transcript": "XM_047418706.1",
"protein_id": "XP_047274662.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 2026,
"cds_start": 4559,
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"cdna_start": 4917,
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"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": 3,
"exon_rank_end": null,
"exon_count": 6,
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},
{
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},
{
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],
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{
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],
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"gene_symbol": "HIVEP1",
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},
{
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"intron_variant"
],
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"gene_symbol": "HIVEP1",
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}
],
"gene_symbol": "HIVEP1",
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"dbsnp": "rs2228212",
"frequency_reference_population": 0.3423286,
"hom_count_reference_population": 96623,
"allele_count_reference_population": 552213,
"gnomad_exomes_af": 0.3456,
"gnomad_genomes_af": 0.31089,
"gnomad_exomes_ac": 504949,
"gnomad_genomes_ac": 47264,
"gnomad_exomes_homalt": 88931,
"gnomad_genomes_homalt": 7692,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002849876880645752,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.002,
"revel_prediction": "Benign",
"alphamissense_score": 0.0982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.702,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379388.7",
"gene_symbol": "HIVEP1",
"hgnc_id": 4920,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4559C>G",
"hgvs_p": "p.Ala1520Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}