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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: 5-10391705-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10391705&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10391705,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005885.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "NM_005885.4",
"protein_id": "NP_005876.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 910,
"cds_start": 740,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274140.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005885.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000274140.10",
"protein_id": "ENSP00000274140.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 910,
"cds_start": 740,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005885.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274140.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000930189.1",
"protein_id": "ENSP00000600248.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 919,
"cds_start": 740,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930189.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000863549.1",
"protein_id": "ENSP00000533608.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 915,
"cds_start": 740,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863549.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000863552.1",
"protein_id": "ENSP00000533611.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 912,
"cds_start": 740,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863552.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000956725.1",
"protein_id": "ENSP00000626784.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 880,
"cds_start": 740,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956725.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000863551.1",
"protein_id": "ENSP00000533610.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 873,
"cds_start": 740,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863551.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.596C>G",
"hgvs_p": "p.Ala199Gly",
"transcript": "ENST00000956724.1",
"protein_id": "ENSP00000626783.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 867,
"cds_start": 596,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956724.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000863553.1",
"protein_id": "ENSP00000533612.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 865,
"cds_start": 740,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863553.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.596C>G",
"hgvs_p": "p.Ala199Gly",
"transcript": "ENST00000863550.1",
"protein_id": "ENSP00000533609.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 864,
"cds_start": 596,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863550.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000956723.1",
"protein_id": "ENSP00000626782.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 863,
"cds_start": 740,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956723.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.596C>G",
"hgvs_p": "p.Ala199Gly",
"transcript": "NM_001270660.2",
"protein_id": "NP_001257589.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 862,
"cds_start": 596,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270660.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.596C>G",
"hgvs_p": "p.Ala199Gly",
"transcript": "ENST00000449913.6",
"protein_id": "ENSP00000414643.2",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 862,
"cds_start": 596,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449913.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "NM_001270661.2",
"protein_id": "NP_001257590.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 805,
"cds_start": 425,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270661.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Ala142Gly",
"transcript": "ENST00000503788.5",
"protein_id": "ENSP00000425930.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 805,
"cds_start": 425,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503788.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ala179Gly",
"transcript": "XM_011513932.3",
"protein_id": "XP_011512234.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 842,
"cds_start": 536,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513932.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Ala137Gly",
"transcript": "XM_047416611.1",
"protein_id": "XP_047272567.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 800,
"cds_start": 410,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416611.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_047416612.1",
"protein_id": "XP_047272568.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 799,
"cds_start": 740,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416612.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_011513934.3",
"protein_id": "XP_011512236.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 791,
"cds_start": 740,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513934.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.266C>G",
"hgvs_p": "p.Ala89Gly",
"transcript": "XM_047416613.1",
"protein_id": "XP_047272569.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 752,
"cds_start": 266,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416613.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_011513936.4",
"protein_id": "XP_011512238.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 637,
"cds_start": 740,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513936.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF6",
"gene_hgnc_id": 30550,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "XM_017008944.3",
"protein_id": "XP_016864433.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 460,
"cds_start": 740,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "NM_005885.4",
"gene_symbol": "MARCHF6",
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"effects": [
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"inheritance_mode": "AD",
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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
}