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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: 16-89761961-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89761961&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89761961,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "NM_000135.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "NM_000135.4",
"protein_id": "NP_000126.2",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389301.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000135.4"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "ENST00000389301.8",
"protein_id": "ENSP00000373952.3",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000135.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389301.8"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "ENST00000564475.6",
"protein_id": "ENSP00000454977.2",
"transcript_support_level": 2,
"aa_start": 947,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564475.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "NM_001286167.3",
"protein_id": "NP_001273096.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1424,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286167.3"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "ENST00000568369.6",
"protein_id": "ENSP00000456829.1",
"transcript_support_level": 2,
"aa_start": 947,
"aa_end": null,
"aa_length": 1424,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568369.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "ENST00000696287.1",
"protein_id": "ENSP00000512524.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1420,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696287.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2725dupT",
"hgvs_p": "p.Ser909fs",
"transcript": "ENST00000916500.1",
"protein_id": "ENSP00000586559.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2725,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916500.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs",
"transcript": "ENST00000950570.1",
"protein_id": "ENSP00000620629.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1412,
"cds_start": 2839,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.211dupT",
"hgvs_p": null,
"transcript": "ENST00000305699.15",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000305699.15"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.214dupT",
"hgvs_p": null,
"transcript": "ENST00000561660.1",
"protein_id": "ENSP00000456588.1",
"transcript_support_level": 5,
"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": "ENST00000561660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*1446dupT",
"hgvs_p": null,
"transcript": "ENST00000561667.2",
"protein_id": "ENSP00000512522.1",
"transcript_support_level": 4,
"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": "ENST00000561667.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*169dupT",
"hgvs_p": null,
"transcript": "ENST00000563318.1",
"protein_id": "ENSP00000457970.1",
"transcript_support_level": 5,
"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": "ENST00000563318.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*204dupT",
"hgvs_p": null,
"transcript": "ENST00000563510.5",
"protein_id": "ENSP00000456993.1",
"transcript_support_level": 5,
"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": "ENST00000563510.5"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*1232dupT",
"hgvs_p": null,
"transcript": "ENST00000567510.2",
"protein_id": "ENSP00000455969.1",
"transcript_support_level": 3,
"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": "ENST00000567510.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.175dupT",
"hgvs_p": null,
"transcript": "ENST00000567988.5",
"protein_id": "ENSP00000454217.1",
"transcript_support_level": 5,
"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": "ENST00000567988.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.2800dupT",
"hgvs_p": null,
"transcript": "ENST00000696274.1",
"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": "ENST00000696274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*2074dupT",
"hgvs_p": null,
"transcript": "ENST00000696275.1",
"protein_id": "ENSP00000512517.1",
"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": "ENST00000696275.1"
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.2882dupT",
"hgvs_p": null,
"transcript": "ENST00000696276.1",
"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": "pseudogene",
"feature": "ENST00000696276.1"
},
{
"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": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.2839dupT",
"hgvs_p": null,
"transcript": "ENST00000696286.1",
"protein_id": "ENSP00000512523.1",
"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": "ENST00000696286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*1446dupT",
"hgvs_p": null,
"transcript": "ENST00000561667.2",
"protein_id": "ENSP00000512522.1",
"transcript_support_level": 4,
"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": "ENST00000561667.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*169dupT",
"hgvs_p": null,
"transcript": "ENST00000563318.1",
"protein_id": "ENSP00000457970.1",
"transcript_support_level": 5,
"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": "ENST00000563318.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*204dupT",
"hgvs_p": null,
"transcript": "ENST00000563510.5",
"protein_id": "ENSP00000456993.1",
"transcript_support_level": 5,
"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": "ENST00000563510.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*1232dupT",
"hgvs_p": null,
"transcript": "ENST00000567510.2",
"protein_id": "ENSP00000455969.1",
"transcript_support_level": 3,
"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": "ENST00000567510.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
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"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*2074dupT",
"hgvs_p": null,
"transcript": "ENST00000696275.1",
"protein_id": "ENSP00000512517.1",
"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": "ENST00000696275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*2498+2928dupT",
"hgvs_p": null,
"transcript": "ENST00000696291.1",
"protein_id": "ENSP00000512530.1",
"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": "ENST00000696291.1"
}
],
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"dbsnp": "rs756367276",
"frequency_reference_population": 0.0000068163877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000547332,
"gnomad_genomes_af": 0.000019721,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 4.844,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000135.4",
"gene_symbol": "FANCA",
"hgnc_id": 3582,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2839dupT",
"hgvs_p": "p.Ser947fs"
}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group A",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}