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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: 11-59153251-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59153251&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 59153251,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000675163.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001312909.2",
"protein_id": "NP_001299838.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": "ENST00000675163.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "ENST00000675163.1",
"protein_id": "ENSP00000501952.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": "NM_001312909.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "ENST00000531147.1",
"protein_id": "ENSP00000431631.1",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001142519.3",
"protein_id": "NP_001135991.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001142520.3",
"protein_id": "NP_001135992.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001142521.3",
"protein_id": "NP_001135993.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001312910.2",
"protein_id": "NP_001299839.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001312911.2",
"protein_id": "NP_001299840.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001369457.1",
"protein_id": "NP_001356386.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374804.1",
"protein_id": "NP_001361733.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 4293,
"cdna_end": null,
"cdna_length": 6081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374848.1",
"protein_id": "NP_001361777.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374849.1",
"protein_id": "NP_001361778.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374850.1",
"protein_id": "NP_001361779.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374851.1",
"protein_id": "NP_001361780.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
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"cds_start": 1583,
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"cdna_start": 2043,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374852.1",
"protein_id": "NP_001361781.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374853.1",
"protein_id": "NP_001361782.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
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"cdna_start": 2185,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374854.1",
"protein_id": "NP_001361783.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374855.1",
"protein_id": "NP_001361784.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
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"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374856.1",
"protein_id": "NP_001361785.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
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"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374857.1",
"protein_id": "NP_001361786.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
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"cdna_start": 2250,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374858.1",
"protein_id": "NP_001361787.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 4197,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly",
"transcript": "NM_001374859.1",
"protein_id": "NP_001361788.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
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{
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "FAM111A",
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"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Asp488Gly",
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"protein_id": "ENSP00000508374.1",
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"aa_start": 488,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "FAM111A-DT",
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"transcript": "ENST00000827446.1",
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"cds_start": -4,
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"cdna_length": 993,
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"feature": null
}
],
"gene_symbol": "FAM111A",
"gene_hgnc_id": 24725,
"dbsnp": "rs587777013",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.593268632888794,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.1124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.63,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675163.1",
"gene_symbol": "FAM111A",
"hgnc_id": 24725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Asp528Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000827446.1",
"gene_symbol": "FAM111A-DT",
"hgnc_id": 53752,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.177-13084T>C",
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}
],
"clinvar_disease": "Osteocraniostenosis",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Osteocraniostenosis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}