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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: 2-101790717-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101790717&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101790717,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001395002.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001395002.1",
"protein_id": "NP_001381931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": null,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324219.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395002.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "ENST00000324219.9",
"protein_id": "ENSP00000313644.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": null,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395002.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324219.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "ENST00000350878.9",
"protein_id": "ENSP00000343658.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1273,
"cds_start": null,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350878.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "ENST00000347699.8",
"protein_id": "ENSP00000314363.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1239,
"cds_start": null,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347699.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "ENST00000634702.1",
"protein_id": "ENSP00000489579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": null,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384497.1",
"protein_id": "NP_001371426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1381,
"cds_start": null,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384492.1",
"protein_id": "NP_001371421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1352,
"cds_start": null,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.97-3C>T",
"hgvs_p": null,
"transcript": "NM_001384564.1",
"protein_id": "NP_001371493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1341,
"cds_start": null,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384493.1",
"protein_id": "NP_001371422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1330,
"cds_start": null,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384477.1",
"protein_id": "NP_001371406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1328,
"cds_start": null,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.97-3C>T",
"hgvs_p": null,
"transcript": "NM_001384555.1",
"protein_id": "NP_001371484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": null,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384506.1",
"protein_id": "NP_001371435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": null,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.97-3C>T",
"hgvs_p": null,
"transcript": "NM_001384553.1",
"protein_id": "NP_001371482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": null,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.97-3C>T",
"hgvs_p": null,
"transcript": "NM_001384563.1",
"protein_id": "NP_001371492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1318,
"cds_start": null,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384481.1",
"protein_id": "NP_001371410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": null,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384486.1",
"protein_id": "NP_001371415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1307,
"cds_start": null,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384486.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384488.1",
"protein_id": "NP_001371417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1306,
"cds_start": null,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "ENST00000902131.1",
"protein_id": "ENSP00000572190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902131.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "ENST00000971084.1",
"protein_id": "ENSP00000641143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1303,
"cds_start": null,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971084.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384548.1",
"protein_id": "NP_001371477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": null,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
"transcript": "NM_001384487.1",
"protein_id": "NP_001371416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": null,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP4K4",
"gene_hgnc_id": 6866,
"hgvs_c": "c.124-3C>T",
"hgvs_p": null,
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],
"gene_symbol": "MAP4K4",
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"dbsnp": "rs373459163",
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"gnomad_exomes_af": 0.00013542,
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"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.13600000739097595,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.868,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.183706400909342,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001395002.1",
"gene_symbol": "MAP4K4",
"hgnc_id": 6866,
"effects": [
"splice_region_variant",
"intron_variant"
],
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}