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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: 1-156815190-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156815190&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156815190,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001161441.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "NM_003975.4",
"protein_id": "NP_003966.2",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 389,
"cds_start": 155,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368199.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003975.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "ENST00000368199.8",
"protein_id": "ENSP00000357182.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 389,
"cds_start": 155,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003975.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368199.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "ENST00000392306.2",
"protein_id": "ENSP00000376123.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 399,
"cds_start": 155,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392306.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Asn34Ser",
"transcript": "ENST00000368198.8",
"protein_id": "ENSP00000357181.3",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 371,
"cds_start": 101,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368198.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "NM_001161441.2",
"protein_id": "NP_001154913.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 399,
"cds_start": 155,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161441.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Asn58Ser",
"transcript": "ENST00000874633.1",
"protein_id": "ENSP00000544692.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 395,
"cds_start": 173,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874633.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "ENST00000874631.1",
"protein_id": "ENSP00000544690.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 390,
"cds_start": 155,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874631.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "NM_001161444.2",
"protein_id": "NP_001154916.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 389,
"cds_start": 155,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161444.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "ENST00000874634.1",
"protein_id": "ENSP00000544693.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 389,
"cds_start": 155,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874634.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.Asn48Ser",
"transcript": "ENST00000874635.1",
"protein_id": "ENSP00000544694.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 386,
"cds_start": 143,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874635.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.Asn48Ser",
"transcript": "ENST00000874630.1",
"protein_id": "ENSP00000544689.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 385,
"cds_start": 143,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874630.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.Asn48Ser",
"transcript": "ENST00000874632.1",
"protein_id": "ENSP00000544691.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 385,
"cds_start": 143,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874632.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Asn34Ser",
"transcript": "NM_001161442.2",
"protein_id": "NP_001154914.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 371,
"cds_start": 101,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161442.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.71A>G",
"hgvs_p": "p.Asn24Ser",
"transcript": "NM_001161443.2",
"protein_id": "NP_001154915.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 361,
"cds_start": 71,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161443.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Asn58Ser",
"transcript": "ENST00000957671.1",
"protein_id": "ENSP00000627730.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 299,
"cds_start": 173,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957671.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "ENST00000874629.1",
"protein_id": "ENSP00000544688.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 293,
"cds_start": 155,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874629.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Asn52Ser",
"transcript": "ENST00000874636.1",
"protein_id": "ENSP00000544695.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 244,
"cds_start": 155,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874636.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Asn58Ser",
"transcript": "XM_017002762.3",
"protein_id": "XP_016858251.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 405,
"cds_start": 173,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002762.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Asn58Ser",
"transcript": "XM_006711615.3",
"protein_id": "XP_006711678.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 395,
"cds_start": 173,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711615.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.Asn48Ser",
"transcript": "XM_017002764.3",
"protein_id": "XP_016858253.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 385,
"cds_start": 143,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002764.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Asn34Ser",
"transcript": "XM_017002765.2",
"protein_id": "XP_016858254.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 381,
"cds_start": 101,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002765.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asn30Ser",
"transcript": "XM_017002766.2",
"protein_id": "XP_016858255.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 377,
"cds_start": 89,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
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{
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "NM_001161441.2",
"gene_symbol": "SH2D2A",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.155A>G",
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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
}