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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: 2-27312589-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27312589&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27312589,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000380044.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg",
"transcript": "NM_002437.5",
"protein_id": "NP_002428.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 176,
"cds_start": 280,
"cds_end": null,
"cds_length": 531,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": "ENST00000380044.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg",
"transcript": "ENST00000380044.6",
"protein_id": "ENSP00000369383.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 176,
"cds_start": 280,
"cds_end": null,
"cds_length": 531,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": "NM_002437.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg",
"transcript": "ENST00000233545.6",
"protein_id": "ENSP00000233545.2",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 176,
"cds_start": 280,
"cds_end": null,
"cds_length": 531,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg",
"transcript": "ENST00000403262.6",
"protein_id": "ENSP00000385671.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 171,
"cds_start": 280,
"cds_end": null,
"cds_length": 516,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Gly109Arg",
"transcript": "ENST00000405983.5",
"protein_id": "ENSP00000384586.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 191,
"cds_start": 325,
"cds_end": null,
"cds_length": 576,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg",
"transcript": "ENST00000402310.5",
"protein_id": "ENSP00000383955.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 170,
"cds_start": 280,
"cds_end": null,
"cds_length": 513,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000357186.10",
"protein_id": "ENSP00000349713.6",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 120,
"cds_start": 112,
"cds_end": null,
"cds_length": 363,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Arg",
"transcript": "ENST00000428910.5",
"protein_id": "ENSP00000405235.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 114,
"cds_start": 202,
"cds_end": null,
"cds_length": 347,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Gly82Glu",
"transcript": "ENST00000402722.5",
"protein_id": "ENSP00000386000.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 99,
"cds_start": 245,
"cds_end": null,
"cds_length": 300,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg",
"transcript": "XM_005264326.5",
"protein_id": "XP_005264383.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 176,
"cds_start": 280,
"cds_end": null,
"cds_length": 531,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Gly78Arg",
"transcript": "XM_017004151.2",
"protein_id": "XP_016859640.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 160,
"cds_start": 232,
"cds_end": null,
"cds_length": 483,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.*81G>A",
"hgvs_p": null,
"transcript": "ENST00000415514.5",
"protein_id": "ENSP00000388043.1",
"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": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.245G>A",
"hgvs_p": null,
"transcript": "ENST00000426513.6",
"protein_id": "ENSP00000403824.2",
"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": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.308G>A",
"hgvs_p": null,
"transcript": "ENST00000475085.1",
"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": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.257G>A",
"hgvs_p": null,
"transcript": "ENST00000616446.1",
"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": 546,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.799G>A",
"hgvs_p": null,
"transcript": "ENST00000616707.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.306G>A",
"hgvs_p": null,
"transcript": "ENST00000617583.4",
"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": 965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.336G>A",
"hgvs_p": null,
"transcript": "ENST00000621183.4",
"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": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.296G>A",
"hgvs_p": null,
"transcript": "ENST00000621470.4",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.453G>A",
"hgvs_p": null,
"transcript": "ENST00000622003.4",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.*81G>A",
"hgvs_p": null,
"transcript": "ENST00000415514.5",
"protein_id": "ENSP00000388043.1",
"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": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.207+91G>A",
"hgvs_p": null,
"transcript": "ENST00000430991.5",
"protein_id": "ENSP00000406441.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": -4,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
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"transcript": "ENST00000405076.5",
"protein_id": "ENSP00000385175.1",
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"aa_length": 113,
"cds_start": -4,
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"cdna_length": 603,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "MPV17",
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"hgvs_c": "n.-136G>A",
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"transcript": "ENST00000620797.4",
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"transcript_support_level": 3,
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"cds_start": -4,
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"cdna_length": 624,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"dbsnp": "rs267607257",
"frequency_reference_population": 0.0000024785174,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205245,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8456869125366211,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27799999713897705,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.807,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.115,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.0127533330079556,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000380044.6",
"gene_symbol": "MPV17",
"hgnc_id": 7224,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Gly94Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}