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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: 1-42179768-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42179768&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42179768,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014947.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "NM_014947.5",
"protein_id": "NP_055762.3",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361346.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014947.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000361346.6",
"protein_id": "ENSP00000354620.1",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014947.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361346.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000372572.5",
"protein_id": "ENSP00000361653.1",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372572.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "NM_001198850.2",
"protein_id": "NP_001185779.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198850.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "NM_001198851.2",
"protein_id": "NP_001185780.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198851.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000372573.5",
"protein_id": "ENSP00000361654.1",
"transcript_support_level": 2,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372573.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000545068.5",
"protein_id": "ENSP00000439044.1",
"transcript_support_level": 5,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545068.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000940311.1",
"protein_id": "ENSP00000610370.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940311.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "ENST00000959443.1",
"protein_id": "ENSP00000629502.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959443.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570Gln",
"transcript": "NM_001198852.2",
"protein_id": "NP_001185781.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 588,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198852.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570Gln",
"transcript": "ENST00000361776.5",
"protein_id": "ENSP00000354449.1",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 588,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361776.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570Gln",
"transcript": "ENST00000861681.1",
"protein_id": "ENSP00000531740.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 588,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861681.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570Gln",
"transcript": "ENST00000861682.1",
"protein_id": "ENSP00000531741.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 588,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861682.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570Gln",
"transcript": "ENST00000940310.1",
"protein_id": "ENSP00000610369.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 588,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940310.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118Gln",
"transcript": "ENST00000372571.5",
"protein_id": "ENSP00000361652.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 136,
"cds_start": 353,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372571.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1835G>A",
"hgvs_p": "p.Arg612Gln",
"transcript": "XM_005270632.5",
"protein_id": "XP_005270689.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 630,
"cds_start": 1835,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270632.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "XM_024454163.2",
"protein_id": "XP_024309931.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454163.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "XM_047449471.1",
"protein_id": "XP_047305427.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449471.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "XM_047449474.1",
"protein_id": "XP_047305430.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449474.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln",
"transcript": "XM_047449478.1",
"protein_id": "XP_047305434.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 622,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449478.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589Gln",
"transcript": "XM_006710458.5",
"protein_id": "XP_006710521.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 607,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710458.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Arg589Gln",
"transcript": "XM_047449486.1",
"protein_id": "XP_047305442.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 607,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1824,
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{
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],
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{
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],
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},
{
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],
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{
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],
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"feature": "XM_017000693.3"
},
{
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"strand": false,
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"missense_variant"
],
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"gene_symbol": "FOXJ3",
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"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502Gln",
"transcript": "XM_017000694.2",
"protein_id": "XP_016856183.1",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_017000694.2"
}
],
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"dbsnp": "rs202207556",
"frequency_reference_population": 0.00005328324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000547269,
"gnomad_genomes_af": 0.0000394187,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09189674258232117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1199,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.437,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014947.5",
"gene_symbol": "FOXJ3",
"hgnc_id": 29178,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Arg604Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}