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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: 14-36311690-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=36311690&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 36311690,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016586.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "NM_016586.3",
"protein_id": "NP_057670.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 344,
"cds_start": 673,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000416007.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016586.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000416007.9",
"protein_id": "ENSP00000399718.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 344,
"cds_start": 673,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416007.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000318473.11",
"protein_id": "ENSP00000324444.5",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 343,
"cds_start": 673,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318473.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000359527.11",
"protein_id": "ENSP00000352517.5",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 282,
"cds_start": 673,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359527.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Arg237Gly",
"transcript": "ENST00000917538.1",
"protein_id": "ENSP00000587597.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 356,
"cds_start": 709,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917538.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Arg237Gly",
"transcript": "ENST00000917537.1",
"protein_id": "ENSP00000587596.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 355,
"cds_start": 709,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917537.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Arg237Gly",
"transcript": "ENST00000917541.1",
"protein_id": "ENSP00000587600.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 355,
"cds_start": 709,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917541.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Arg233Gly",
"transcript": "ENST00000917539.1",
"protein_id": "ENSP00000587598.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 352,
"cds_start": 697,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917539.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000905197.1",
"protein_id": "ENSP00000575256.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 351,
"cds_start": 673,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905197.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "NM_001144891.2",
"protein_id": "NP_001138363.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 343,
"cds_start": 673,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144891.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000950008.1",
"protein_id": "ENSP00000620067.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 343,
"cds_start": 673,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950008.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "ENST00000905201.1",
"protein_id": "ENSP00000575260.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 341,
"cds_start": 673,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905201.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Arg222Gly",
"transcript": "ENST00000950007.1",
"protein_id": "ENSP00000620066.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 341,
"cds_start": 664,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950007.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Arg210Gly",
"transcript": "ENST00000905199.1",
"protein_id": "ENSP00000575258.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 329,
"cds_start": 628,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905199.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Arg210Gly",
"transcript": "ENST00000905202.1",
"protein_id": "ENSP00000575261.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 329,
"cds_start": 628,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905202.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Arg210Gly",
"transcript": "ENST00000905200.1",
"protein_id": "ENSP00000575259.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 328,
"cds_start": 628,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905200.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Arg210Gly",
"transcript": "ENST00000917540.1",
"protein_id": "ENSP00000587599.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 328,
"cds_start": 628,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917540.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Arg203Gly",
"transcript": "ENST00000905196.1",
"protein_id": "ENSP00000575255.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 322,
"cds_start": 607,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905196.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Arg203Gly",
"transcript": "ENST00000905198.1",
"protein_id": "ENSP00000575257.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 321,
"cds_start": 607,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905198.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Arg188Gly",
"transcript": "ENST00000950009.1",
"protein_id": "ENSP00000620068.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 307,
"cds_start": 562,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950009.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.661A>G",
"hgvs_p": "p.Arg221Gly",
"transcript": "ENST00000605579.5",
"protein_id": "ENSP00000473739.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 298,
"cds_start": 661,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605579.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBIP",
"gene_hgnc_id": 20427,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Arg225Gly",
"transcript": "NM_001308110.2",
"protein_id": "NP_001295039.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 282,
"cds_start": 673,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308110.2"
},
{
"aa_ref": "R",
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"canonical": false,
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{
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{
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{
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{
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],
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{
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],
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"biotype": "pseudogene",
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],
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"dbsnp": "rs371414445",
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"computational_score_selected": 0.20878756046295166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.554,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_016586.3",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}