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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: 17-43877967-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43877967&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43877967,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000461854.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "NM_005374.5",
"protein_id": "NP_005365.4",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 552,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": "ENST00000269095.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "ENST00000269095.9",
"protein_id": "ENSP00000269095.4",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 552,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": "NM_005374.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524Gln",
"transcript": "ENST00000461854.5",
"protein_id": "ENSP00000428286.1",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 576,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517Gln",
"transcript": "ENST00000377184.7",
"protein_id": "ENSP00000366389.3",
"transcript_support_level": 1,
"aa_start": 517,
"aa_end": null,
"aa_length": 569,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001278370.2",
"protein_id": "NP_001265299.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 597,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000518766.5",
"protein_id": "ENSP00000428182.1",
"transcript_support_level": 2,
"aa_start": 545,
"aa_end": null,
"aa_length": 597,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524Gln",
"transcript": "NM_001278372.2",
"protein_id": "NP_001265301.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 576,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 4274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517Gln",
"transcript": "NM_001278376.3",
"protein_id": "NP_001265305.2",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 569,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "NM_001278381.2",
"protein_id": "NP_001265310.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 552,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "ENST00000612133.4",
"protein_id": "ENSP00000478528.1",
"transcript_support_level": 5,
"aa_start": 500,
"aa_end": null,
"aa_length": 552,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "NM_001278371.2",
"protein_id": "NP_001265300.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 541,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "NM_001278373.2",
"protein_id": "NP_001265302.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 541,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "NM_001278375.2",
"protein_id": "NP_001265304.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 541,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "ENST00000523501.5",
"protein_id": "ENSP00000430540.1",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 541,
"cds_start": 1466,
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"cdna_start": 1531,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "ENST00000536246.5",
"protein_id": "ENSP00000438012.1",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 541,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Gln",
"transcript": "ENST00000622681.4",
"protein_id": "ENSP00000480071.1",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
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"cds_start": 1466,
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"cdna_start": 1638,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"transcript": "NM_001278374.2",
"protein_id": "NP_001265303.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 413,
"cds_start": 1082,
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"cds_length": 1242,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"transcript": "ENST00000520305.5",
"protein_id": "ENSP00000428136.1",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 413,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1476,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578Gln",
"transcript": "XM_011524827.3",
"protein_id": "XP_011523129.2",
"transcript_support_level": null,
"aa_start": 578,
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"cds_start": 1733,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1661G>A",
"hgvs_p": "p.Arg554Gln",
"transcript": "XM_024450760.2",
"protein_id": "XP_024306528.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 606,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "XM_024450762.2",
"protein_id": "XP_024306530.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 552,
"cds_start": 1499,
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"cdna_start": 1856,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Gln",
"transcript": "XM_024450763.2",
"protein_id": "XP_024306531.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 552,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239Gln",
"transcript": "XM_047436096.1",
"protein_id": "XP_047292052.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 291,
"cds_start": 716,
"cds_end": null,
"cds_length": 876,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MPP2",
"gene_hgnc_id": 7220,
"dbsnp": "rs761519494",
"frequency_reference_population": 0.000014257677,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000130046,
"gnomad_genomes_af": 0.0000262916,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21008139848709106,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.1711,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.806,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000461854.5",
"gene_symbol": "MPP2",
"hgnc_id": 7220,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524Gln"
}
],
"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
}