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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: 2-237493530-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237493530&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237493530,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264605.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_024101.7",
"protein_id": "NP_077006.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 600,
"cds_start": 104,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000264605.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000264605.8",
"protein_id": "ENSP00000264605.3",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 600,
"cds_start": 104,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_024101.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000338530.8",
"protein_id": "ENSP00000341845.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 572,
"cds_start": 104,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000409373.5",
"protein_id": "ENSP00000386780.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 480,
"cds_start": 104,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.315G>A",
"hgvs_p": null,
"transcript": "ENST00000468178.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_001042467.3",
"protein_id": "NP_001035932.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 572,
"cds_start": 104,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_001281473.2",
"protein_id": "NP_001268402.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 480,
"cds_start": 104,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "NM_001281474.2",
"protein_id": "NP_001268403.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 457,
"cds_start": 104,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000410032.5",
"protein_id": "ENSP00000386338.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 457,
"cds_start": 104,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000422695.5",
"protein_id": "ENSP00000409170.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 130,
"cds_start": 104,
"cds_end": null,
"cds_length": 394,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "ENST00000429898.5",
"protein_id": "ENSP00000403909.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 69,
"cds_start": 104,
"cds_end": null,
"cds_length": 211,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_017004893.2",
"protein_id": "XP_016860382.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 600,
"cds_start": 104,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_047445806.1",
"protein_id": "XP_047301762.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 572,
"cds_start": 104,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_006712737.2",
"protein_id": "XP_006712800.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 560,
"cds_start": 104,
"cds_end": null,
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"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_047445807.1",
"protein_id": "XP_047301763.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 551,
"cds_start": 104,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_006712739.2",
"protein_id": "XP_006712802.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 548,
"cds_start": 104,
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"cdna_start": 315,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_006712740.2",
"protein_id": "XP_006712803.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 532,
"cds_start": 104,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_017004894.2",
"protein_id": "XP_016860383.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 523,
"cds_start": 104,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_047445808.1",
"protein_id": "XP_047301764.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
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"cds_start": 104,
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"cdna_start": 315,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_047445809.1",
"protein_id": "XP_047301765.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
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"cds_start": 104,
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"cdna_start": 315,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln",
"transcript": "XM_047445810.1",
"protein_id": "XP_047301766.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 431,
"cds_start": 104,
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"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.291G>A",
"hgvs_p": null,
"transcript": "ENST00000469619.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.315G>A",
"hgvs_p": null,
"transcript": "ENST00000477222.5",
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.315G>A",
"hgvs_p": null,
"transcript": "NR_104019.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"dbsnp": "rs786205551",
"frequency_reference_population": 0.000013639655,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143759,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7082899212837219,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.639,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4193,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.847,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PM5",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000264605.8",
"gene_symbol": "MLPH",
"hgnc_id": 29643,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35Gln"
}
],
"clinvar_disease": "Griscelli syndrome type 3,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Griscelli syndrome type 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}