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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: 21-32495141-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32495141&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32495141,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_058187.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "NM_058187.5",
"protein_id": "NP_478067.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 441,
"cds_start": 749,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300255.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058187.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "ENST00000300255.7",
"protein_id": "ENSP00000300255.2",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 441,
"cds_start": 749,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058187.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300255.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "ENST00000382699.7",
"protein_id": "ENSP00000372146.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 438,
"cds_start": 749,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382699.7"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*339A>G",
"hgvs_p": null,
"transcript": "ENST00000437338.5",
"protein_id": "ENSP00000389291.1",
"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": "ENST00000437338.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*339A>G",
"hgvs_p": null,
"transcript": "ENST00000437338.5",
"protein_id": "ENSP00000389291.1",
"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": "ENST00000437338.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "ENST00000960933.1",
"protein_id": "ENSP00000630992.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 441,
"cds_start": 749,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960933.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.Lys249Arg",
"transcript": "ENST00000898248.1",
"protein_id": "ENSP00000568307.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 440,
"cds_start": 746,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898248.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "NM_001286556.2",
"protein_id": "NP_001273485.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 438,
"cds_start": 749,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286556.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.Lys249Arg",
"transcript": "ENST00000898244.1",
"protein_id": "ENSP00000568303.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 437,
"cds_start": 746,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898244.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "ENST00000898253.1",
"protein_id": "ENSP00000568312.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 411,
"cds_start": 749,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898253.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.Lys249Arg",
"transcript": "ENST00000960935.1",
"protein_id": "ENSP00000630994.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 410,
"cds_start": 746,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960935.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "ENST00000960934.1",
"protein_id": "ENSP00000630993.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 408,
"cds_start": 749,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960934.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg",
"transcript": "ENST00000898247.1",
"protein_id": "ENSP00000568306.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 384,
"cds_start": 749,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898247.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.746A>G",
"hgvs_p": "p.Lys249Arg",
"transcript": "ENST00000960936.1",
"protein_id": "ENSP00000630995.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 383,
"cds_start": 746,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960936.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Lys155Arg",
"transcript": "NM_001320745.2",
"protein_id": "NP_001307674.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 346,
"cds_start": 464,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320745.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Lys143Arg",
"transcript": "NM_001320744.2",
"protein_id": "NP_001307673.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 334,
"cds_start": 428,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320744.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Lys143Arg",
"transcript": "ENST00000898243.1",
"protein_id": "ENSP00000568302.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 334,
"cds_start": 428,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898243.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Lys143Arg",
"transcript": "ENST00000960932.1",
"protein_id": "ENSP00000630991.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 334,
"cds_start": 428,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960932.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Lys143Arg",
"transcript": "ENST00000898245.1",
"protein_id": "ENSP00000568304.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 331,
"cds_start": 428,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898245.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Lys143Arg",
"transcript": "ENST00000898252.1",
"protein_id": "ENSP00000568311.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 304,
"cds_start": 428,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898252.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.Lys92Arg",
"transcript": "ENST00000898251.1",
"protein_id": "ENSP00000568310.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 283,
"cds_start": 275,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898251.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Lys143Arg",
"transcript": "ENST00000898246.1",
"protein_id": "ENSP00000568305.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 277,
"cds_start": 428,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.*4A>G",
"hgvs_p": null,
"transcript": "ENST00000412833.1",
"protein_id": "ENSP00000389269.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.*38A>G",
"hgvs_p": null,
"transcript": "XR_001754885.2",
"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": "XR_001754885.2"
}
],
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"dbsnp": "rs770516737",
"frequency_reference_population": 0.000002478284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_genomes_af": 0.0000197197,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.128332257270813,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.59,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_058187.5",
"gene_symbol": "EVA1C",
"hgnc_id": 13239,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Lys250Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673740.1",
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*324+2594T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}