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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: 16-76557616-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=76557616&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 76557616,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000611870.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3734-874T>A",
"hgvs_p": null,
"transcript": "NM_033401.5",
"protein_id": "NP_207837.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": "ENST00000611870.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3734-874T>A",
"hgvs_p": null,
"transcript": "ENST00000611870.5",
"protein_id": "ENSP00000479811.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": "NM_033401.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3590-874T>A",
"hgvs_p": null,
"transcript": "ENST00000622250.4",
"protein_id": "ENSP00000477698.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": -4,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287694",
"gene_hgnc_id": null,
"hgvs_c": "n.3733+3709T>A",
"hgvs_p": null,
"transcript": "ENST00000655556.1",
"protein_id": "ENSP00000499374.1",
"transcript_support_level": null,
"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": 5415,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.241T>A",
"hgvs_p": null,
"transcript": "ENST00000619533.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3743-874T>A",
"hgvs_p": null,
"transcript": "ENST00000476707.1",
"protein_id": "ENSP00000417628.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3734-874T>A",
"hgvs_p": null,
"transcript": "ENST00000307431.12",
"protein_id": "ENSP00000306893.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3731-874T>A",
"hgvs_p": null,
"transcript": "NM_001322181.2",
"protein_id": "NP_001309110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": -4,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3629-874T>A",
"hgvs_p": null,
"transcript": "NM_001322188.2",
"protein_id": "NP_001309117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1273,
"cds_start": -4,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3590-874T>A",
"hgvs_p": null,
"transcript": "NM_001322190.2",
"protein_id": "NP_001309119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": -4,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3590-874T>A",
"hgvs_p": null,
"transcript": "ENST00000377504.8",
"protein_id": "ENSP00000439733.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": -4,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3584-874T>A",
"hgvs_p": null,
"transcript": "NM_001322178.2",
"protein_id": "NP_001309107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1258,
"cds_start": -4,
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"cds_length": 3777,
"cdna_start": null,
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"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3515-874T>A",
"hgvs_p": null,
"transcript": "NM_138994.5",
"protein_id": "NP_620481.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1235,
"cds_start": -4,
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"cds_length": 3708,
"cdna_start": null,
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"cdna_length": 5827,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3515-874T>A",
"hgvs_p": null,
"transcript": "ENST00000478060.5",
"protein_id": "ENSP00000418741.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
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"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3494-874T>A",
"hgvs_p": null,
"transcript": "NM_001322179.2",
"protein_id": "NP_001309108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1228,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6023,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3470-874T>A",
"hgvs_p": null,
"transcript": "NM_001322189.2",
"protein_id": "NP_001309118.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.3347-874T>A",
"hgvs_p": null,
"transcript": "NM_001322180.2",
"protein_id": "NP_001309109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.2807-874T>A",
"hgvs_p": null,
"transcript": "NM_001322191.2",
"protein_id": "NP_001309120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": -4,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
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"cdna_length": 6064,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.2318-874T>A",
"hgvs_p": null,
"transcript": "NM_001322187.2",
"protein_id": "NP_001309116.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287694",
"gene_hgnc_id": null,
"hgvs_c": "n.157+3709T>A",
"hgvs_p": null,
"transcript": "ENST00000563764.2",
"protein_id": "ENSP00000455258.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.4138-874T>A",
"hgvs_p": null,
"transcript": "NR_136210.2",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.4037-874T>A",
"hgvs_p": null,
"transcript": "NR_136213.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.4225-874T>A",
"hgvs_p": null,
"transcript": "NR_136216.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
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"gene_symbol": "CNTNAP4",
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"hgvs_c": "c.3659-874T>A",
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"transcript": "XM_011523403.3",
"protein_id": "XP_011521705.1",
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"aa_start": null,
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"aa_length": 1283,
"cds_start": -4,
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"cds_length": 3852,
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"feature": null
}
],
"gene_symbol": "CNTNAP4",
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"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": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.63,
"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": -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": "ENST00000611870.5",
"gene_symbol": "CNTNAP4",
"hgnc_id": 18747,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3734-874T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000655556.1",
"gene_symbol": "ENSG00000287694",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3733+3709T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}