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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: 15-22873720-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22873720&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22873720,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001324119.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "NM_014608.6",
"protein_id": "NP_055423.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "ENST00000617928.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014608.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000617928.5",
"protein_id": "ENSP00000481038.1",
"transcript_support_level": 1,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "NM_014608.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617928.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000610365.4",
"protein_id": "ENSP00000478779.1",
"transcript_support_level": 1,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3411,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610365.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Ile643Val",
"transcript": "ENST00000617556.4",
"protein_id": "ENSP00000480525.1",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 822,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617556.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "n.2367A>G",
"hgvs_p": null,
"transcript": "ENST00000619348.4",
"protein_id": null,
"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": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000619348.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3322A>G",
"hgvs_p": "p.Ile1108Val",
"transcript": "NM_001324119.2",
"protein_id": "NP_001311048.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3322,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324119.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3265A>G",
"hgvs_p": "p.Ile1089Val",
"transcript": "ENST00000900867.1",
"protein_id": "ENSP00000570926.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3265,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900867.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3265A>G",
"hgvs_p": "p.Ile1089Val",
"transcript": "ENST00000945410.1",
"protein_id": "ENSP00000615469.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3265,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945410.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "NM_001287810.4",
"protein_id": "NP_001274739.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287810.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "NM_001324120.2",
"protein_id": "NP_001311049.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3508,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324120.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "NM_001324123.3",
"protein_id": "NP_001311052.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 6853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324123.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000900858.1",
"protein_id": "ENSP00000570917.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3473,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900858.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000900859.1",
"protein_id": "ENSP00000570918.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900859.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000900861.1",
"protein_id": "ENSP00000570920.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900861.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000900871.1",
"protein_id": "ENSP00000570930.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900871.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000900872.1",
"protein_id": "ENSP00000570931.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900872.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000919971.1",
"protein_id": "ENSP00000590030.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919971.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000919972.1",
"protein_id": "ENSP00000590031.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3465,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919972.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000919973.1",
"protein_id": "ENSP00000590032.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919973.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000945411.1",
"protein_id": "ENSP00000615470.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3538,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945411.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000945412.1",
"protein_id": "ENSP00000615471.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3220,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945412.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3220A>G",
"hgvs_p": "p.Ile1074Val",
"transcript": "ENST00000945413.1",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001324119.2",
"gene_symbol": "CYFIP1",
"hgnc_id": 13759,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3322A>G",
"hgvs_p": "p.Ile1108Val"
}
],
"clinvar_disease": "CYFIP1-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "CYFIP1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}