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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: 6-73519341-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73519341&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73519341,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000309268.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "NM_001402.6",
"protein_id": "NP_001393.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": "ENST00000309268.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000309268.11",
"protein_id": "ENSP00000339053.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": "NM_001402.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000316292.13",
"protein_id": "ENSP00000339063.7",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000850909.1",
"protein_id": "ENSP00000520989.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 470,
"cds_start": 320,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000331523.7",
"protein_id": "ENSP00000330054.2",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000356303.7",
"protein_id": "ENSP00000348651.3",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000455918.2",
"protein_id": "ENSP00000392366.2",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000615060.5",
"protein_id": "ENSP00000479055.2",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000676710.1",
"protein_id": "ENSP00000504335.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000677236.1",
"protein_id": "ENSP00000503192.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000678508.1",
"protein_id": "ENSP00000503249.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000678702.1",
"protein_id": "ENSP00000503823.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 462,
"cds_start": 320,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ser104Phe",
"transcript": "ENST00000610520.5",
"protein_id": "ENSP00000479609.2",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 459,
"cds_start": 311,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ser104Phe",
"transcript": "ENST00000678703.1",
"protein_id": "ENSP00000504801.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 459,
"cds_start": 311,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000850907.1",
"protein_id": "ENSP00000520987.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 451,
"cds_start": 320,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000850908.1",
"protein_id": "ENSP00000520988.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 446,
"cds_start": 320,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000678515.1",
"protein_id": "ENSP00000504630.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 433,
"cds_start": 320,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe",
"transcript": "ENST00000676547.1",
"protein_id": "ENSP00000503518.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 376,
"cds_start": 320,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "n.382C>T",
"hgvs_p": null,
"transcript": "ENST00000488500.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "n.724C>T",
"hgvs_p": null,
"transcript": "ENST00000490569.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "n.749C>T",
"hgvs_p": null,
"transcript": "ENST00000491404.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "n.383C>T",
"hgvs_p": null,
"transcript": "ENST00000495333.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1A1",
"gene_hgnc_id": 3189,
"hgvs_c": "n.1286C>T",
"hgvs_p": null,
"transcript": "ENST00000677062.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
{
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"canonical": false,
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"non_coding_transcript_exon_variant"
],
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "EEF1A1",
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"hgvs_c": "n.*69C>T",
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"transcript": "ENST00000678143.1",
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}
],
"gene_symbol": "EEF1A1",
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"dbsnp": "rs11550818",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9463343620300293,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.867,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.986,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000309268.11",
"gene_symbol": "EEF1A1",
"hgnc_id": 3189,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Ser107Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}