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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: 3-196247405-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=196247405&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 196247405,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005017.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "NM_001312673.2",
"protein_id": "NP_001299602.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 367,
"cds_start": 448,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": "ENST00000431016.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312673.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000431016.6",
"protein_id": "ENSP00000394617.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 367,
"cds_start": 448,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": "NM_001312673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431016.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000292823.6",
"protein_id": "ENSP00000292823.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 367,
"cds_start": 448,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292823.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.1284C>G",
"hgvs_p": null,
"transcript": "ENST00000460677.5",
"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": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460677.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.1289C>G",
"hgvs_p": null,
"transcript": "ENST00000473978.5",
"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": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473978.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000419333.5",
"protein_id": "ENSP00000390968.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 380,
"cds_start": 448,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419333.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "NM_005017.4",
"protein_id": "NP_005008.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 367,
"cds_start": 448,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005017.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000875586.1",
"protein_id": "ENSP00000545645.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 367,
"cds_start": 448,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875586.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Pro149Ala",
"transcript": "ENST00000875587.1",
"protein_id": "ENSP00000545646.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 366,
"cds_start": 445,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875587.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.415C>G",
"hgvs_p": "p.Pro139Ala",
"transcript": "ENST00000875583.1",
"protein_id": "ENSP00000545642.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 356,
"cds_start": 415,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 5522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875583.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.415C>G",
"hgvs_p": "p.Pro139Ala",
"transcript": "ENST00000928611.1",
"protein_id": "ENSP00000598670.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 356,
"cds_start": 415,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928611.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000875584.1",
"protein_id": "ENSP00000545643.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 304,
"cds_start": 448,
"cds_end": null,
"cds_length": 915,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875584.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000875585.1",
"protein_id": "ENSP00000545644.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 293,
"cds_start": 448,
"cds_end": null,
"cds_length": 882,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875585.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000411591.5",
"protein_id": "ENSP00000400430.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 292,
"cds_start": 448,
"cds_end": null,
"cds_length": 879,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411591.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala",
"transcript": "ENST00000441879.5",
"protein_id": "ENSP00000392397.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 211,
"cds_start": 448,
"cds_end": null,
"cds_length": 638,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441879.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.250C>G",
"hgvs_p": "p.Pro84Ala",
"transcript": "ENST00000430755.5",
"protein_id": "ENSP00000402283.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 201,
"cds_start": 250,
"cds_end": null,
"cds_length": 606,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430755.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.67C>G",
"hgvs_p": "p.Pro23Ala",
"transcript": "ENST00000433733.5",
"protein_id": "ENSP00000390458.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 136,
"cds_start": 67,
"cds_end": null,
"cds_length": 411,
"cdna_start": 67,
"cdna_end": null,
"cdna_length": 411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433733.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.*168C>G",
"hgvs_p": null,
"transcript": "ENST00000444822.5",
"protein_id": "ENSP00000397888.1",
"transcript_support_level": 3,
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000444822.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.181C>G",
"hgvs_p": null,
"transcript": "ENST00000488235.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.*168C>G",
"hgvs_p": null,
"transcript": "ENST00000444822.5",
"protein_id": "ENSP00000397888.1",
"transcript_support_level": 3,
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000444822.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.*47C>G",
"hgvs_p": null,
"transcript": "ENST00000412869.5",
"protein_id": "ENSP00000402015.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.*103C>G",
"hgvs_p": null,
"transcript": "ENST00000443555.1",
"protein_id": "ENSP00000393341.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443555.1"
},
{
"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": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.*261C>G",
"hgvs_p": null,
"transcript": "ENST00000438634.5",
"protein_id": "ENSP00000391405.1",
"transcript_support_level": 4,
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438634.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.*62C>G",
"hgvs_p": null,
"transcript": "ENST00000491544.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491544.1"
}
],
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"dbsnp": "rs587777190",
"frequency_reference_population": 0.0000020521604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205216,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9426499009132385,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.973,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.599,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_005017.4",
"gene_symbol": "PCYT1A",
"hgnc_id": 8754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Pro150Ala"
}
],
"clinvar_disease": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}