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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: 2-118974381-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=118974381&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 118974381,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006770.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "NM_006770.4",
"protein_id": "NP_006761.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327097.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006770.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000327097.5",
"protein_id": "ENSP00000318916.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006770.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327097.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874357.1",
"protein_id": "ENSP00000544416.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 549,
"cds_start": 509,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874357.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958830.1",
"protein_id": "ENSP00000628889.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 534,
"cds_start": 509,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958830.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874354.1",
"protein_id": "ENSP00000544413.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 526,
"cds_start": 509,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874354.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Pro180Arg",
"transcript": "ENST00000874358.1",
"protein_id": "ENSP00000544417.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 526,
"cds_start": 539,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874358.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958823.1",
"protein_id": "ENSP00000628882.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 517,
"cds_start": 509,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958823.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958825.1",
"protein_id": "ENSP00000628884.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 517,
"cds_start": 509,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958825.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958829.1",
"protein_id": "ENSP00000628888.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 517,
"cds_start": 509,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958829.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874356.1",
"protein_id": "ENSP00000544415.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 516,
"cds_start": 509,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874356.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.473C>G",
"hgvs_p": "p.Pro158Arg",
"transcript": "ENST00000874351.1",
"protein_id": "ENSP00000544410.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 508,
"cds_start": 473,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874351.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874349.1",
"protein_id": "ENSP00000544408.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 505,
"cds_start": 509,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874349.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874352.1",
"protein_id": "ENSP00000544411.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 505,
"cds_start": 509,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874352.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958832.1",
"protein_id": "ENSP00000628891.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 505,
"cds_start": 509,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958832.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874359.1",
"protein_id": "ENSP00000544418.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 499,
"cds_start": 509,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874359.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874353.1",
"protein_id": "ENSP00000544412.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 487,
"cds_start": 509,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874353.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958833.1",
"protein_id": "ENSP00000628892.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 487,
"cds_start": 509,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958833.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958826.1",
"protein_id": "ENSP00000628885.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 484,
"cds_start": 509,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958826.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958828.1",
"protein_id": "ENSP00000628887.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
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"cds_start": 509,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958828.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000958824.1",
"protein_id": "ENSP00000628883.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 461,
"cds_start": 509,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958824.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Pro170Arg",
"transcript": "ENST00000874355.1",
"protein_id": "ENSP00000544414.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 451,
"cds_start": 509,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874355.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.284C>G",
"hgvs_p": "p.Pro95Arg",
"transcript": "ENST00000958831.1",
"protein_id": "ENSP00000628890.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 445,
"cds_start": 284,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958831.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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"gene_symbol": "MARCO",
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{
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],
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},
{
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],
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"gene_symbol": "MARCO",
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{
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"biotype": "protein_coding",
"feature": "XM_011512083.4"
},
{
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],
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"gene_symbol": "MARCO",
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"transcript": "XM_017005171.3",
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"biotype": "protein_coding",
"feature": "XM_017005171.3"
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],
"gene_symbol": "MARCO",
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"dbsnp": "rs140806715",
"frequency_reference_population": 0.000019865387,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000191955,
"gnomad_genomes_af": 0.0000262867,
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"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11737647652626038,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.423,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0989,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.597,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006770.4",
"gene_symbol": "MARCO",
"hgnc_id": 6895,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.509C>G",
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],
"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
}