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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: 9-130470877-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130470877&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 130470877,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000050.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "NM_054012.4",
"protein_id": "NP_446464.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": "ENST00000352480.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_054012.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000352480.10",
"protein_id": "ENSP00000253004.6",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": "NM_054012.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352480.10"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852201.1",
"protein_id": "ENSP00000522260.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 477,
"cds_start": 539,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852201.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852207.1",
"protein_id": "ENSP00000522266.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 453,
"cds_start": 539,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852207.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852187.1",
"protein_id": "ENSP00000522246.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 416,
"cds_start": 539,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852187.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852198.1",
"protein_id": "ENSP00000522257.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 416,
"cds_start": 539,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852198.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "NM_000050.4",
"protein_id": "NP_000041.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000050.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000372393.7",
"protein_id": "ENSP00000361469.2",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372393.7"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000372394.5",
"protein_id": "ENSP00000361471.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372394.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852176.1",
"protein_id": "ENSP00000522235.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852176.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852178.1",
"protein_id": "ENSP00000522237.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852178.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852179.1",
"protein_id": "ENSP00000522238.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852179.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852180.1",
"protein_id": "ENSP00000522239.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852180.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852181.1",
"protein_id": "ENSP00000522240.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852181.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852183.1",
"protein_id": "ENSP00000522241.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852183.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852185.1",
"protein_id": "ENSP00000522244.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852185.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852191.1",
"protein_id": "ENSP00000522249.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852191.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852193.1",
"protein_id": "ENSP00000522251.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852193.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852194.1",
"protein_id": "ENSP00000522254.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852194.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852199.1",
"protein_id": "ENSP00000522258.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852199.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852200.1",
"protein_id": "ENSP00000522259.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852200.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile",
"transcript": "ENST00000852203.1",
"protein_id": "ENSP00000522262.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 412,
"cds_start": 539,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852203.1"
},
{
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],
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"exon_count": 8,
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"gene_symbol": "ASS1",
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"transcript": "ENST00000422569.5",
"protein_id": "ENSP00000394212.1",
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"biotype": "protein_coding",
"feature": "ENST00000422569.5"
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 6,
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"gene_symbol": "ASS1",
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"hgvs_c": "c.482G>T",
"hgvs_p": "p.Ser161Ile",
"transcript": "ENST00000443588.1",
"protein_id": "ENSP00000397785.1",
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"aa_start": 161,
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"cdna_start": 488,
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"biotype": "protein_coding",
"feature": "ENST00000443588.1"
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "ASS1",
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"hgvs_c": "c.175-5994G>T",
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"transcript": "ENST00000852210.1",
"protein_id": "ENSP00000522269.1",
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"biotype": "protein_coding",
"feature": "ENST00000852210.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 7,
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"gene_symbol": "ASS1",
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"hgvs_c": "n.248G>T",
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"transcript": "ENST00000467695.5",
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"biotype": "retained_intron",
"feature": "ENST00000467695.5"
},
{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"gene_symbol": "ASS1",
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"hgvs_c": "n.370G>T",
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"transcript": "ENST00000493984.6",
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"biotype": "retained_intron",
"feature": "ENST00000493984.6"
}
],
"gene_symbol": "ASS1",
"gene_hgnc_id": 758,
"dbsnp": "rs121908638",
"frequency_reference_population": 0.000003097878,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205224,
"gnomad_genomes_af": 0.0000131413,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9901655912399292,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.963,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.152,
"phylop100way_prediction": "Uncertain_significance",
"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": 23,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 23,
"benign_score": 0,
"pathogenic_score": 23,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000050.4",
"gene_symbol": "ASS1",
"hgnc_id": 758,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.539G>T",
"hgvs_p": "p.Ser180Ile"
}
],
"clinvar_disease": "Citrullinemia,Citrullinemia type I,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:5",
"phenotype_combined": "Citrullinemia type I|Citrullinemia|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}