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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: 11-32392026-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32392026&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 32392026,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024426.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1393T>A",
"hgvs_p": "p.Phe465Ile",
"transcript": "NM_024426.6",
"protein_id": "NP_077744.4",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 522,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000452863.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024426.6"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1393T>A",
"hgvs_p": "p.Phe465Ile",
"transcript": "ENST00000452863.10",
"protein_id": "ENSP00000415516.5",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 522,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024426.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452863.10"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Phe448Ile",
"transcript": "ENST00000639563.4",
"protein_id": "ENSP00000492269.3",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 505,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639563.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Phe448Ile",
"transcript": "ENST00000332351.9",
"protein_id": "ENSP00000331327.5",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 502,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332351.9"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.742T>A",
"hgvs_p": "p.Phe248Ile",
"transcript": "ENST00000379079.8",
"protein_id": "ENSP00000368370.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 302,
"cds_start": 742,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379079.8"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.718T>A",
"hgvs_p": "p.Phe240Ile",
"transcript": "ENST00000640146.2",
"protein_id": "ENSP00000491984.2",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 297,
"cds_start": 718,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640146.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*577T>A",
"hgvs_p": null,
"transcript": "ENST00000379077.9",
"protein_id": "ENSP00000368368.5",
"transcript_support_level": 1,
"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": "ENST00000379077.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*577T>A",
"hgvs_p": null,
"transcript": "ENST00000379077.9",
"protein_id": "ENSP00000368368.5",
"transcript_support_level": 1,
"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": "ENST00000379077.9"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1393T>A",
"hgvs_p": "p.Phe465Ile",
"transcript": "NM_024424.5",
"protein_id": "NP_077742.3",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 519,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024424.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1393T>A",
"hgvs_p": "p.Phe465Ile",
"transcript": "ENST00000448076.9",
"protein_id": "ENSP00000413452.5",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 519,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448076.9"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1387T>A",
"hgvs_p": "p.Phe463Ile",
"transcript": "NM_001407044.1",
"protein_id": "NP_001393973.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 517,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407044.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Phe448Ile",
"transcript": "NM_001407045.1",
"protein_id": "NP_001393974.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 505,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407045.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1342T>A",
"hgvs_p": "p.Phe448Ile",
"transcript": "NM_000378.6",
"protein_id": "NP_000369.4",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 502,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000378.6"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1270T>A",
"hgvs_p": "p.Phe424Ile",
"transcript": "NM_001407047.1",
"protein_id": "NP_001393976.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407047.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1252T>A",
"hgvs_p": "p.Phe418Ile",
"transcript": "NM_001407048.1",
"protein_id": "NP_001393977.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 475,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407048.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1219T>A",
"hgvs_p": "p.Phe407Ile",
"transcript": "NM_001407050.1",
"protein_id": "NP_001393979.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 464,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407050.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1174T>A",
"hgvs_p": "p.Phe392Ile",
"transcript": "NM_001429031.1",
"protein_id": "NP_001415960.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 449,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429031.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1174T>A",
"hgvs_p": "p.Phe392Ile",
"transcript": "NM_001429032.1",
"protein_id": "NP_001415961.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 446,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429032.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1174T>A",
"hgvs_p": "p.Phe392Ile",
"transcript": "ENST00000850608.1",
"protein_id": "ENSP00000520896.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 446,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850608.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1123T>A",
"hgvs_p": "p.Phe375Ile",
"transcript": "NM_001429033.1",
"protein_id": "NP_001415962.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 432,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429033.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1123T>A",
"hgvs_p": "p.Phe375Ile",
"transcript": "ENST00000850609.1",
"protein_id": "ENSP00000520897.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 432,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850609.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1123T>A",
"hgvs_p": "p.Phe375Ile",
"transcript": "NM_001429034.1",
"protein_id": "NP_001415963.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 429,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 9,
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"gene_symbol": "WT1",
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"transcript": "ENST00000651459.3",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651459.3"
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],
"gene_symbol": "WT1",
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"dbsnp": "rs28941779",
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"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000479003,
"gnomad_genomes_af": 0.000191523,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8278197050094604,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.683,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.287,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM5,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM5",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024426.6",
"gene_symbol": "WT1",
"hgnc_id": 12796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1393T>A",
"hgvs_p": "p.Phe465Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}