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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: 19-42287330-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42287330&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42287330,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001304815.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001386298.1",
"protein_id": "NP_001373227.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2517,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000681038.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386298.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "ENST00000681038.1",
"protein_id": "ENSP00000505728.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2517,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386298.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681038.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "ENST00000575354.6",
"protein_id": "ENSP00000458663.2",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 1608,
"cds_start": 463,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575354.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001304815.2",
"protein_id": "NP_001291744.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2517,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304815.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001379480.1",
"protein_id": "NP_001366409.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2516,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379480.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001379482.1",
"protein_id": "NP_001366411.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2516,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379482.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001439183.1",
"protein_id": "NP_001426112.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2516,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439183.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "ENST00000940332.1",
"protein_id": "ENSP00000610391.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2516,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940332.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001439184.1",
"protein_id": "NP_001426113.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2515,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439184.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001439185.1",
"protein_id": "NP_001426114.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2515,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439185.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001439186.1",
"protein_id": "NP_001426115.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2515,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439186.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "ENST00000868566.1",
"protein_id": "ENSP00000538625.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2515,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868566.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "ENST00000940333.1",
"protein_id": "ENSP00000610392.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2515,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940333.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001439187.1",
"protein_id": "NP_001426116.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2514,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439187.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "ENST00000572681.6",
"protein_id": "ENSP00000459719.1",
"transcript_support_level": 5,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2514,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572681.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val",
"transcript": "NM_001439188.1",
"protein_id": "NP_001426117.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 2513,
"cds_start": 3190,
"cds_end": null,
"cds_length": 7542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439188.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "NM_015125.5",
"protein_id": "NP_055940.3",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1608,
"cds_start": 463,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015125.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "NM_001439189.1",
"protein_id": "NP_001426118.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1607,
"cds_start": 463,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439189.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "NM_001439190.1",
"protein_id": "NP_001426119.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1607,
"cds_start": 463,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439190.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "NM_001379484.1",
"protein_id": "NP_001366413.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1606,
"cds_start": 463,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379484.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "NM_001439191.1",
"protein_id": "NP_001426120.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1606,
"cds_start": 463,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439191.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"transcript": "ENST00000160740.7",
"protein_id": "ENSP00000160740.3",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 1606,
"cds_start": 463,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "n.2273A>G",
"hgvs_p": null,
"transcript": "ENST00000684265.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000684265.1"
}
],
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"dbsnp": "rs199958449",
"frequency_reference_population": 0.000019825757,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000171015,
"gnomad_genomes_af": 0.0000459921,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0337064266204834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.904,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001304815.2",
"gene_symbol": "CIC",
"hgnc_id": 14214,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3190A>G",
"hgvs_p": "p.Ile1064Val"
}
],
"clinvar_disease": "CIC-related disorder,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified|CIC-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}