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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: 7-124825277-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=124825277&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 124825277,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_015450.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "NM_015450.3",
"protein_id": "NP_056265.2",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357628.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015450.3"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000357628.8",
"protein_id": "ENSP00000350249.3",
"transcript_support_level": 2,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015450.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357628.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*119_*120delAT",
"hgvs_p": null,
"transcript": "ENST00000607932.5",
"protein_id": "ENSP00000476506.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*862_*863delAT",
"hgvs_p": null,
"transcript": "ENST00000608057.5",
"protein_id": "ENSP00000476371.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000608057.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*119_*120delAT",
"hgvs_p": null,
"transcript": "ENST00000607932.5",
"protein_id": "ENSP00000476506.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*862_*863delAT",
"hgvs_p": null,
"transcript": "ENST00000608057.5",
"protein_id": "ENSP00000476371.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000608057.5"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000653241.1",
"protein_id": "ENSP00000499476.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653241.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000655761.1",
"protein_id": "ENSP00000499635.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000655761.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000664366.1",
"protein_id": "ENSP00000499290.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664366.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000668382.1",
"protein_id": "ENSP00000499546.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668382.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000867252.1",
"protein_id": "ENSP00000537311.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867252.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000867254.1",
"protein_id": "ENSP00000537313.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867254.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000928342.1",
"protein_id": "ENSP00000598401.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928342.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000928344.1",
"protein_id": "ENSP00000598403.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928344.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000928345.1",
"protein_id": "ENSP00000598404.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928345.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000928346.1",
"protein_id": "ENSP00000598405.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928346.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000947757.1",
"protein_id": "ENSP00000617816.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947757.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs",
"transcript": "ENST00000947758.1",
"protein_id": "ENSP00000617817.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 634,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947758.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1750_1751delAT",
"hgvs_p": "p.Met584fs",
"transcript": "ENST00000947756.1",
"protein_id": "ENSP00000617815.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 629,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947756.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1540_1541delAT",
"hgvs_p": "p.Met514fs",
"transcript": "ENST00000654766.1",
"protein_id": "ENSP00000499395.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 559,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654766.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1540_1541delAT",
"hgvs_p": "p.Met514fs",
"transcript": "ENST00000928341.1",
"protein_id": "ENSP00000598400.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 559,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928341.1"
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1474_1475delAT",
"hgvs_p": "p.Met492fs",
"transcript": "ENST00000867253.1",
"protein_id": "ENSP00000537312.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 537,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1614,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000657892.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"exon_count": 19,
"intron_rank": null,
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"hgvs_c": "n.*229_*230delAT",
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"transcript": "ENST00000661898.1",
"protein_id": "ENSP00000499528.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000661898.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*1660_*1661delAT",
"hgvs_p": null,
"transcript": "ENST00000662531.1",
"protein_id": "ENSP00000499488.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000662531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*1616_*1617delAT",
"hgvs_p": null,
"transcript": "ENST00000664330.1",
"protein_id": "ENSP00000499781.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000664330.1"
}
],
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"dbsnp": "rs771968149",
"frequency_reference_population": 0.0000013734528,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137345,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.307,
"phylop100way_prediction": "Benign",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015450.3",
"gene_symbol": "POT1",
"hgnc_id": 17284,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1765_1766delAT",
"hgvs_p": "p.Met589fs"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tumor predisposition syndrome 3",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Tumor predisposition syndrome 3|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}