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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: 17-78204840-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78204840&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78204840,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145526.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "NM_001010982.5",
"protein_id": "NP_001010982.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 303,
"cds_start": 407,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409257.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010982.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "ENST00000409257.10",
"protein_id": "ENSP00000386890.4",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 303,
"cds_start": 407,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010982.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409257.10"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "ENST00000327898.9",
"protein_id": "ENSP00000328938.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 308,
"cds_start": 407,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327898.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.His167Arg",
"transcript": "ENST00000857474.1",
"protein_id": "ENSP00000527533.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 334,
"cds_start": 500,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857474.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.His165Arg",
"transcript": "ENST00000857484.1",
"protein_id": "ENSP00000527543.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 332,
"cds_start": 494,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857484.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "ENST00000965675.1",
"protein_id": "ENSP00000635734.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 327,
"cds_start": 407,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965675.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "ENST00000857463.1",
"protein_id": "ENSP00000527522.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 322,
"cds_start": 407,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857463.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.His153Arg",
"transcript": "ENST00000857469.1",
"protein_id": "ENSP00000527528.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 320,
"cds_start": 458,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857469.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.His142Arg",
"transcript": "ENST00000857477.1",
"protein_id": "ENSP00000527536.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 314,
"cds_start": 425,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857477.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.His137Arg",
"transcript": "ENST00000857470.1",
"protein_id": "ENSP00000527529.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 309,
"cds_start": 410,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857470.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "NM_001145526.3",
"protein_id": "NP_001138998.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 308,
"cds_start": 407,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145526.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.His138Arg",
"transcript": "ENST00000857478.1",
"protein_id": "ENSP00000527537.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 305,
"cds_start": 413,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857478.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.His137Arg",
"transcript": "ENST00000857464.1",
"protein_id": "ENSP00000527523.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 304,
"cds_start": 410,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857464.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.His101Arg",
"transcript": "ENST00000857480.1",
"protein_id": "ENSP00000527539.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 273,
"cds_start": 302,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857480.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "ENST00000857481.1",
"protein_id": "ENSP00000527540.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 273,
"cds_start": 407,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857481.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.His101Arg",
"transcript": "ENST00000857465.1",
"protein_id": "ENSP00000527524.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 268,
"cds_start": 302,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857465.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.His77Arg",
"transcript": "ENST00000857482.1",
"protein_id": "ENSP00000527541.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 249,
"cds_start": 230,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857482.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.His77Arg",
"transcript": "ENST00000857476.1",
"protein_id": "ENSP00000527535.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 244,
"cds_start": 230,
"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": "ENST00000857476.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "NM_001391999.1",
"protein_id": "NP_001378928.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 240,
"cds_start": 407,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391999.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.167A>G",
"hgvs_p": "p.His56Arg",
"transcript": "ENST00000857485.1",
"protein_id": "ENSP00000527544.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 223,
"cds_start": 167,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857485.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "ENST00000591256.5",
"protein_id": "ENSP00000466515.1",
"transcript_support_level": 4,
"aa_start": 136,
"aa_end": null,
"aa_length": 205,
"cds_start": 407,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591256.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg",
"transcript": "NM_001392001.1",
"protein_id": "NP_001378930.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 181,
"cds_start": 407,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001392001.1"
},
{
"aa_ref": "P",
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"transcript": "XR_934369.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_934369.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
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"hgvs_c": "n.*373A>G",
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"transcript": "ENST00000589107.5",
"protein_id": "ENSP00000467869.1",
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"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589107.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "AFMID",
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"hgvs_c": "n.32-600A>G",
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"transcript": "ENST00000585419.1",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585419.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "n.145-1106A>G",
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"transcript": "ENST00000587750.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000587750.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "n.309-600A>G",
"hgvs_p": null,
"transcript": "ENST00000588199.5",
"protein_id": "ENSP00000465406.1",
"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": "ENST00000588199.5"
}
],
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"dbsnp": "rs764562456",
"frequency_reference_population": 0.00002540068,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000205214,
"gnomad_genomes_af": 0.0000722553,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05284148454666138,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0603,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.987,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001145526.3",
"gene_symbol": "AFMID",
"hgnc_id": 20910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.407A>G",
"hgvs_p": "p.His136Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}