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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: 7-2572253-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2572253&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2572253,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_152558.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.323delG",
"hgvs_p": "p.Gly108fs",
"transcript": "NM_152558.5",
"protein_id": "NP_689771.3",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 695,
"cds_start": 323,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 6857,
"mane_select": "ENST00000402050.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.323delG",
"hgvs_p": "p.Gly108fs",
"transcript": "ENST00000402050.7",
"protein_id": "ENSP00000385597.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 695,
"cds_start": 323,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 6857,
"mane_select": "NM_152558.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000623361.3",
"protein_id": "ENSP00000485601.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 128,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 6775,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "n.*100delG",
"hgvs_p": null,
"transcript": "ENST00000325997.13",
"protein_id": "ENSP00000314011.10",
"transcript_support_level": 1,
"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": 2235,
"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": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "n.457delG",
"hgvs_p": null,
"transcript": "ENST00000470731.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2251,
"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": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "n.*100delG",
"hgvs_p": null,
"transcript": "ENST00000325997.13",
"protein_id": "ENSP00000314011.10",
"transcript_support_level": 1,
"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": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.323delG",
"hgvs_p": "p.Gly108fs",
"transcript": "NM_001287499.2",
"protein_id": "NP_001274428.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 702,
"cds_start": 323,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.323delG",
"hgvs_p": "p.Gly108fs",
"transcript": "ENST00000476665.5",
"protein_id": "ENSP00000480715.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 702,
"cds_start": 323,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.275delG",
"hgvs_p": "p.Gly92fs",
"transcript": "NM_001287500.2",
"protein_id": "NP_001274429.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 686,
"cds_start": 275,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.275delG",
"hgvs_p": "p.Gly92fs",
"transcript": "ENST00000611775.4",
"protein_id": "ENSP00000480668.1",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 686,
"cds_start": 275,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.275delG",
"hgvs_p": "p.Gly92fs",
"transcript": "NM_001410865.1",
"protein_id": "NP_001397794.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 679,
"cds_start": 275,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 6809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.275delG",
"hgvs_p": "p.Gly92fs",
"transcript": "ENST00000438376.6",
"protein_id": "ENSP00000396178.2",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 679,
"cds_start": 275,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001287502.2",
"protein_id": "NP_001274431.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 637,
"cds_start": 128,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001287501.2",
"protein_id": "NP_001274430.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 128,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000325979.11",
"protein_id": "ENSP00000313772.7",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 128,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.323delG",
"hgvs_p": "p.Gly108fs",
"transcript": "ENST00000415271.6",
"protein_id": "ENSP00000404643.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 245,
"cds_start": 323,
"cds_end": null,
"cds_length": 738,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000422276.3",
"protein_id": "ENSP00000402108.3",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 127,
"cds_start": 128,
"cds_end": null,
"cds_length": 384,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000423395.5",
"protein_id": "ENSP00000413570.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 127,
"cds_start": 128,
"cds_end": null,
"cds_length": 384,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.344delG",
"hgvs_p": "p.Gly115fs",
"transcript": "XM_047420081.1",
"protein_id": "XP_047276037.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 709,
"cds_start": 344,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.344delG",
"hgvs_p": "p.Gly115fs",
"transcript": "XM_017011902.2",
"protein_id": "XP_016867391.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 702,
"cds_start": 344,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 6948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "XM_006715676.3",
"protein_id": "XP_006715739.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 637,
"cds_start": 128,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "XM_047420084.1",
"protein_id": "XP_047276040.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 637,
"cds_start": 128,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.128delG",
"hgvs_p": "p.Gly43fs",
"transcript": "XM_017011903.2",
"protein_id": "XP_016867392.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 128,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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},
{
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],
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"gene_symbol": "IQCE",
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"hgvs_c": "c.-41-1163delG",
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"transcript": "XM_024446699.2",
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}
],
"gene_symbol": "IQCE",
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"dbsnp": "rs746153884",
"frequency_reference_population": 0.00001858683,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000177861,
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"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.874,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_152558.5",
"gene_symbol": "IQCE",
"hgnc_id": 29171,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.323delG",
"hgvs_p": "p.Gly108fs"
}
],
"clinvar_disease": " postaxial, type a7,Polydactyly",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Polydactyly, postaxial, type a7",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}