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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: 22-36286823-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36286823&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36286823,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002473.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "NM_002473.6",
"protein_id": "NP_002464.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216181.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002473.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000216181.11",
"protein_id": "ENSP00000216181.6",
"transcript_support_level": 1,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002473.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216181.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5019C>T",
"hgvs_p": "p.Arg1673Arg",
"transcript": "ENST00000685801.1",
"protein_id": "ENSP00000510688.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685801.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5019C>T",
"hgvs_p": "p.Arg1673Arg",
"transcript": "ENST00000955568.1",
"protein_id": "ENSP00000625627.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955568.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5004C>T",
"hgvs_p": "p.Arg1668Arg",
"transcript": "ENST00000955563.1",
"protein_id": "ENSP00000625622.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5004,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955563.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4995C>T",
"hgvs_p": "p.Arg1665Arg",
"transcript": "ENST00000859030.1",
"protein_id": "ENSP00000529089.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 1973,
"cds_start": 4995,
"cds_end": null,
"cds_length": 5922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859030.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4992C>T",
"hgvs_p": "p.Arg1664Arg",
"transcript": "ENST00000955566.1",
"protein_id": "ENSP00000625625.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4992,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955566.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000859032.1",
"protein_id": "ENSP00000529091.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859032.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000859033.1",
"protein_id": "ENSP00000529092.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859033.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000859034.1",
"protein_id": "ENSP00000529093.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859034.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000859035.1",
"protein_id": "ENSP00000529094.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859035.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000859036.1",
"protein_id": "ENSP00000529095.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859036.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000859037.1",
"protein_id": "ENSP00000529096.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859037.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000955567.1",
"protein_id": "ENSP00000625626.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955567.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4953C>T",
"hgvs_p": "p.Arg1651Arg",
"transcript": "ENST00000955564.1",
"protein_id": "ENSP00000625623.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1959,
"cds_start": 4953,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955564.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4950C>T",
"hgvs_p": "p.Arg1650Arg",
"transcript": "ENST00000927179.1",
"protein_id": "ENSP00000597238.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4950,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927179.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4950C>T",
"hgvs_p": "p.Arg1650Arg",
"transcript": "ENST00000955562.1",
"protein_id": "ENSP00000625621.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4950,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955562.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg",
"transcript": "ENST00000955565.1",
"protein_id": "ENSP00000625624.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1957,
"cds_start": 4956,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955565.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4944C>T",
"hgvs_p": "p.Arg1648Arg",
"transcript": "ENST00000859031.1",
"protein_id": "ENSP00000529090.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1956,
"cds_start": 4944,
"cds_end": null,
"cds_length": 5871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859031.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.1938C>T",
"hgvs_p": "p.Arg646Arg",
"transcript": "ENST00000927178.1",
"protein_id": "ENSP00000597237.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 954,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.1389C>T",
"hgvs_p": null,
"transcript": "ENST00000685708.1",
"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": "retained_intron",
"feature": "ENST00000685708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.5251C>T",
"hgvs_p": null,
"transcript": "ENST00000691109.1",
"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,
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"biotype": "retained_intron",
"feature": "ENST00000691109.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6819",
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"hgvs_c": "n.*24C>T",
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"transcript": "ENST00000622122.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"biotype": "miRNA",
"feature": "ENST00000622122.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
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"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6819",
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"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "NR_106877.1",
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"transcript_support_level": null,
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_106877.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6819",
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"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_3662",
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "miRNA",
"feature": "unassigned_transcript_3662"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6819",
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"hgvs_c": "n.*58C>T",
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"transcript": "unassigned_transcript_3663",
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"biotype": "miRNA",
"feature": "unassigned_transcript_3663"
}
],
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"dbsnp": "rs148632964",
"frequency_reference_population": 0.00023291752,
"hom_count_reference_population": 5,
"allele_count_reference_population": 375,
"gnomad_exomes_af": 0.000234617,
"gnomad_genomes_af": 0.000216649,
"gnomad_exomes_ac": 342,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.75,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002473.6",
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4956C>T",
"hgvs_p": "p.Arg1652Arg"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_106877.1",
"gene_symbol": "MIR6819",
"hgnc_id": 50155,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*24C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 17,MYH9-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"phenotype_combined": "not specified|not provided|MYH9-related disorder|Autosomal dominant nonsyndromic hearing loss 17",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}