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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: 11-2951309-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2951309&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2951309,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001369380.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_005969.4",
"protein_id": "NP_005960.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380542.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005969.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "ENST00000380542.9",
"protein_id": "ENSP00000369915.4",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005969.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380542.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Glu407Gln",
"transcript": "ENST00000955342.1",
"protein_id": "ENSP00000625401.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 424,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955342.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Glu370Gln",
"transcript": "ENST00000448187.6",
"protein_id": "ENSP00000387783.2",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 398,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448187.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Glu370Gln",
"transcript": "ENST00000703798.1",
"protein_id": "ENSP00000515483.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 387,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703798.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Glu370Gln",
"transcript": "ENST00000867783.1",
"protein_id": "ENSP00000537842.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 387,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867783.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Glu370Gln",
"transcript": "ENST00000935415.1",
"protein_id": "ENSP00000605474.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 387,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935415.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Glu370Gln",
"transcript": "ENST00000955343.1",
"protein_id": "ENSP00000625402.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 387,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955343.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Glu370Gln",
"transcript": "ENST00000955354.1",
"protein_id": "ENSP00000625413.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 387,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955354.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369380.1",
"protein_id": "NP_001356309.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369380.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369381.1",
"protein_id": "NP_001356310.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369381.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369382.1",
"protein_id": "NP_001356311.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369382.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369383.1",
"protein_id": "NP_001356312.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369383.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369384.1",
"protein_id": "NP_001356313.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369384.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369385.1",
"protein_id": "NP_001356314.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369385.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369386.1",
"protein_id": "NP_001356315.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369386.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369388.1",
"protein_id": "NP_001356317.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369388.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "ENST00000526115.5",
"protein_id": "ENSP00000436397.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526115.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "ENST00000620138.4",
"protein_id": "ENSP00000481412.1",
"transcript_support_level": 2,
"aa_start": 358,
"aa_end": null,
"aa_length": 386,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620138.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369375.1",
"protein_id": "NP_001356304.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369375.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369376.1",
"protein_id": "NP_001356305.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369376.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAP1L4",
"gene_hgnc_id": 7640,
"hgvs_c": "c.1072G>C",
"hgvs_p": "p.Glu358Gln",
"transcript": "NM_001369377.1",
"protein_id": "NP_001356306.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.25,
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"phylop100way_score": 5.05,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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{
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"benign_score": 6,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001369380.1",
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"effects": [
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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
}