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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: 10-102424140-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102424140&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102424140,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_024040.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "NM_024040.3",
"protein_id": "NP_076945.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369937.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024040.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000369937.5",
"protein_id": "ENSP00000358953.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024040.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369937.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.456T>C",
"hgvs_p": "p.Asp152Asp",
"transcript": "ENST00000888785.1",
"protein_id": "ENSP00000558844.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 289,
"cds_start": 456,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888785.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.456T>C",
"hgvs_p": "p.Asp152Asp",
"transcript": "ENST00000925790.1",
"protein_id": "ENSP00000595849.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 289,
"cds_start": 456,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925790.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.456T>C",
"hgvs_p": "p.Asp152Asp",
"transcript": "ENST00000925792.1",
"protein_id": "ENSP00000595851.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 289,
"cds_start": 456,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925792.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000888778.1",
"protein_id": "ENSP00000558837.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888778.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000888779.1",
"protein_id": "ENSP00000558838.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888779.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000888780.1",
"protein_id": "ENSP00000558839.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888780.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000888781.1",
"protein_id": "ENSP00000558840.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888781.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000888783.1",
"protein_id": "ENSP00000558842.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888783.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000925786.1",
"protein_id": "ENSP00000595845.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925786.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000925787.1",
"protein_id": "ENSP00000595846.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925787.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000925788.1",
"protein_id": "ENSP00000595847.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925788.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000925793.1",
"protein_id": "ENSP00000595852.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925793.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000925794.1",
"protein_id": "ENSP00000595853.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925794.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000941433.1",
"protein_id": "ENSP00000611492.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 287,
"cds_start": 450,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941433.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp",
"transcript": "ENST00000941431.1",
"protein_id": "ENSP00000611490.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 275,
"cds_start": 450,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941431.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.396T>C",
"hgvs_p": "p.Asp132Asp",
"transcript": "ENST00000888784.1",
"protein_id": "ENSP00000558843.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 269,
"cds_start": 396,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888784.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.84T>C",
"hgvs_p": "p.Asp28Asp",
"transcript": "ENST00000925791.1",
"protein_id": "ENSP00000595850.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 165,
"cds_start": 84,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.412-37T>C",
"hgvs_p": null,
"transcript": "ENST00000941432.1",
"protein_id": "ENSP00000611491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.412-40T>C",
"hgvs_p": null,
"transcript": "ENST00000888782.1",
"protein_id": "ENSP00000558841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"hgvs_c": "c.411+124T>C",
"hgvs_p": null,
"transcript": "ENST00000925789.1",
"protein_id": "ENSP00000595848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
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"transcript": "ENST00000465409.1",
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "CUEDC2",
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"hgvs_c": "n.604T>C",
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"transcript": "ENST00000477994.1",
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"biotype": "pseudogene",
"feature": "ENST00000477994.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
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"gene_symbol": "CUEDC2",
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"hgvs_c": "n.419T>C",
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"transcript": "ENST00000486762.6",
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"transcript_support_level": 3,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486762.6"
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],
"gene_symbol": "CUEDC2",
"gene_hgnc_id": 28352,
"dbsnp": "rs373178334",
"frequency_reference_population": 0.0000013681762,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.069,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024040.3",
"gene_symbol": "CUEDC2",
"hgnc_id": 28352,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.450T>C",
"hgvs_p": "p.Asp150Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}