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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: 12-14434367-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14434367&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14434367,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261168.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "NM_018179.5",
"protein_id": "NP_060649.3",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 8823,
"mane_select": "ENST00000261168.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "ENST00000261168.9",
"protein_id": "ENSP00000261168.4",
"transcript_support_level": 5,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 8823,
"mane_select": "NM_018179.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1613A>T",
"hgvs_p": "p.Lys538Ile",
"transcript": "ENST00000544627.5",
"protein_id": "ENSP00000440440.1",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1613,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "ENST00000540793.5",
"protein_id": "ENSP00000444589.1",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>T",
"hgvs_p": "p.Lys529Ile",
"transcript": "ENST00000536444.5",
"protein_id": "ENSP00000445955.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 8774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>T",
"hgvs_p": "p.Lys529Ile",
"transcript": "ENST00000543189.5",
"protein_id": "ENSP00000443179.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1613A>T",
"hgvs_p": "p.Lys538Ile",
"transcript": "NM_181352.2",
"protein_id": "NP_851997.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1613,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 8797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1610A>T",
"hgvs_p": "p.Lys537Ile",
"transcript": "NM_001388179.1",
"protein_id": "NP_001375108.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 1277,
"cds_start": 1610,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 8794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "NM_001388180.1",
"protein_id": "NP_001375109.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 9067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "NM_001388181.1",
"protein_id": "NP_001375110.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 8732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "NM_001388182.1",
"protein_id": "NP_001375111.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "NM_001388183.1",
"protein_id": "NP_001375112.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 9286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>T",
"hgvs_p": "p.Lys529Ile",
"transcript": "NM_001286514.2",
"protein_id": "NP_001273443.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 8820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>T",
"hgvs_p": "p.Lys529Ile",
"transcript": "NM_001388184.1",
"protein_id": "NP_001375113.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1586,
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"cdna_start": 2202,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1586A>T",
"hgvs_p": "p.Lys529Ile",
"transcript": "NM_001286515.2",
"protein_id": "NP_001273444.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1586,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile",
"transcript": "XM_047429148.1",
"protein_id": "XP_047285104.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
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"cdna_start": 1744,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1613A>T",
"hgvs_p": "p.Lys538Ile",
"transcript": "XM_011520756.4",
"protein_id": "XP_011519058.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 969,
"cds_start": 1613,
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"cds_length": 2910,
"cdna_start": 1716,
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"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1613A>T",
"hgvs_p": "p.Lys538Ile",
"transcript": "XM_047429149.1",
"protein_id": "XP_047285105.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 711,
"cds_start": 1613,
"cds_end": null,
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"cdna_start": 1716,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "c.1610A>T",
"hgvs_p": "p.Lys537Ile",
"transcript": "XM_047429150.1",
"protein_id": "XP_047285106.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
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"cds_start": 1610,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "n.1747A>T",
"hgvs_p": null,
"transcript": "ENST00000537653.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "n.1745A>T",
"hgvs_p": null,
"transcript": "ENST00000539659.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "n.1681A>T",
"hgvs_p": null,
"transcript": "ENST00000541654.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF7IP",
"gene_hgnc_id": 20092,
"hgvs_c": "n.1742A>T",
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{
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},
{
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"strand": true,
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}
],
"gene_symbol": "ATF7IP",
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"dbsnp": "rs3213764",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5462779998779297,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.113,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261168.9",
"gene_symbol": "ATF7IP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1589A>T",
"hgvs_p": "p.Lys530Ile"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}