← Back to variant description
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: 6-17421605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=17421605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 17421605,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006366.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "NM_006366.3",
"protein_id": "NP_006357.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 477,
"cds_start": 50,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229922.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006366.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000229922.7",
"protein_id": "ENSP00000229922.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 477,
"cds_start": 50,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006366.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229922.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000479291.5",
"protein_id": "ENSP00000420615.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479291.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857692.1",
"protein_id": "ENSP00000527751.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 520,
"cds_start": 50,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857692.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857694.1",
"protein_id": "ENSP00000527753.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 508,
"cds_start": 50,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857694.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000940430.1",
"protein_id": "ENSP00000610489.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 494,
"cds_start": 50,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940430.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857695.1",
"protein_id": "ENSP00000527754.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 477,
"cds_start": 50,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857695.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857697.1",
"protein_id": "ENSP00000527756.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 477,
"cds_start": 50,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857697.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000950869.1",
"protein_id": "ENSP00000620928.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 477,
"cds_start": 50,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950869.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000940429.1",
"protein_id": "ENSP00000610488.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 50,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940429.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000950865.1",
"protein_id": "ENSP00000620924.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 50,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950865.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000950867.1",
"protein_id": "ENSP00000620926.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 50,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950867.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857703.1",
"protein_id": "ENSP00000527762.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 473,
"cds_start": 50,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "NM_001363534.2",
"protein_id": "NP_001350463.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 451,
"cds_start": 50,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363534.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000378990.6",
"protein_id": "ENSP00000368275.2",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 451,
"cds_start": 50,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378990.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857698.1",
"protein_id": "ENSP00000527757.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 451,
"cds_start": 50,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857698.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857700.1",
"protein_id": "ENSP00000527759.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 430,
"cds_start": 50,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857700.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000950866.1",
"protein_id": "ENSP00000620925.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 429,
"cds_start": 50,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950866.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857701.1",
"protein_id": "ENSP00000527760.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 415,
"cds_start": 50,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000465994.5",
"protein_id": "ENSP00000418604.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 413,
"cds_start": 50,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465994.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "NM_001363533.2",
"protein_id": "NP_001350462.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 365,
"cds_start": 50,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363533.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000489374.5",
"protein_id": "ENSP00000417705.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 365,
"cds_start": 50,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489374.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857696.1",
"protein_id": "ENSP00000527755.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 355,
"cds_start": 50,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857696.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857693.1",
"protein_id": "ENSP00000527752.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 339,
"cds_start": 50,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857693.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857699.1",
"protein_id": "ENSP00000527758.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 291,
"cds_start": 50,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857699.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000857702.1",
"protein_id": "ENSP00000527761.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 286,
"cds_start": 50,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857702.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000950868.1",
"protein_id": "ENSP00000620927.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 260,
"cds_start": 50,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950868.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000940432.1",
"protein_id": "ENSP00000610491.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 222,
"cds_start": 50,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940432.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000493172.5",
"protein_id": "ENSP00000417208.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 217,
"cds_start": 50,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493172.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000940431.1",
"protein_id": "ENSP00000610490.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 174,
"cds_start": 50,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000476263.1",
"protein_id": "ENSP00000419906.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000476263.1"
}
],
"gene_symbol": "CAP2",
"gene_hgnc_id": 20039,
"dbsnp": "rs141863829",
"frequency_reference_population": 0.0000068154077,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000068413,
"gnomad_genomes_af": 0.00000656685,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2990565896034241,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1166,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.896,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_006366.3",
"gene_symbol": "CAP2",
"hgnc_id": 20039,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His"
}
],
"clinvar_disease": " 2I, dilated,Cardiomyopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Cardiomyopathy, dilated, 2I",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}