← 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: 1-6955045-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6955045&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6955045,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000303635.12",
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "NM_015215.4",
"protein_id": "NP_056030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000303635.12",
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "ENST00000303635.12",
"protein_id": "ENSP00000306522.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_015215.4",
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "ENST00000476864.2",
"protein_id": "ENSP00000452319.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6282,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "NM_001349608.2",
"protein_id": "NP_001336537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1643,
"cds_start": -4,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8244,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "NM_001349609.2",
"protein_id": "NP_001336538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1567,
"cds_start": -4,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7965,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "NM_001349610.2",
"protein_id": "NP_001336539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1565,
"cds_start": -4,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7990,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "NM_001410737.1",
"protein_id": "NP_001397666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7944,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "NM_001349612.2",
"protein_id": "NP_001336541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": -4,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7926,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "ENST00000700415.1",
"protein_id": "ENSP00000514979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": -4,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5986,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "NM_001410738.1",
"protein_id": "NP_001397667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1536,
"cds_start": -4,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7872,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "ENST00000700417.1",
"protein_id": "ENSP00000514981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1536,
"cds_start": -4,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.*85+47447T>C",
"hgvs_p": null,
"transcript": "ENST00000700414.1",
"protein_id": "ENSP00000514978.1",
"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": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.*75+83205T>C",
"hgvs_p": null,
"transcript": "ENST00000700444.1",
"protein_id": "ENSP00000514992.1",
"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": 1811,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541083.3",
"protein_id": "XP_011539385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": -4,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8304,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541084.3",
"protein_id": "XP_011539386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": -4,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8335,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.222+129835T>C",
"hgvs_p": null,
"transcript": "XM_047415988.1",
"protein_id": "XP_047271944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1676,
"cds_start": -4,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9050,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541086.4",
"protein_id": "XP_011539388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8283,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_017000774.3",
"protein_id": "XP_016856263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1661,
"cds_start": -4,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7439,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541087.3",
"protein_id": "XP_011539389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1656,
"cds_start": -4,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8232,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_047415993.1",
"protein_id": "XP_047271949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1654,
"cds_start": -4,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7418,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541088.3",
"protein_id": "XP_011539390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": -4,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8234,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_047415997.1",
"protein_id": "XP_047271953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1649,
"cds_start": -4,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8211,
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "XM_047415999.1",
"protein_id": "XP_047271955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1643,
"cds_start": -4,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8213,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "XM_047416005.1",
"protein_id": "XP_047271961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1619,
"cds_start": -4,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.-85+129835T>C",
"hgvs_p": null,
"transcript": "XM_047416009.1",
"protein_id": "XP_047271965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1574,
"cds_start": -4,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8572,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541090.4",
"protein_id": "XP_011539392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1567,
"cds_start": -4,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7996,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_017000778.2",
"protein_id": "XP_016856267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7975,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.144+129835T>C",
"hgvs_p": null,
"transcript": "XM_047416024.1",
"protein_id": "XP_047271980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1506,
"cds_start": -4,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7802,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541091.3",
"protein_id": "XP_011539393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3307,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_011541092.4",
"protein_id": "XP_011539394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5709,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.234+129835T>C",
"hgvs_p": null,
"transcript": "XM_017000780.3",
"protein_id": "XP_016856269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"dbsnp": "rs884736",
"frequency_reference_population": 0.6217439,
"hom_count_reference_population": 29953,
"allele_count_reference_population": 94377,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.621744,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 94377,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 29953,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.026,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000303635.12",
"gene_symbol": "CAMTA1",
"hgnc_id": 18806,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.234+129835T>C",
"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
}