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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: 2-27894645-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27894645&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27894645,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001329114.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_199191.3",
"protein_id": "NP_954661.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379624.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199191.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000379624.6",
"protein_id": "ENSP00000368945.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199191.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379624.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000342045.6",
"protein_id": "ENSP00000339371.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342045.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000361704.6",
"protein_id": "ENSP00000354699.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 376,
"cds_start": 89,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361704.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000379632.6",
"protein_id": "ENSP00000368953.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 376,
"cds_start": 89,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379632.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_001329114.2",
"protein_id": "NP_001316043.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 472,
"cds_start": 89,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329114.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000873732.1",
"protein_id": "ENSP00000543791.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 447,
"cds_start": 89,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873732.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_001329115.2",
"protein_id": "NP_001316044.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 440,
"cds_start": 89,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329115.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000918536.1",
"protein_id": "ENSP00000588595.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 440,
"cds_start": 89,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918536.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000873735.1",
"protein_id": "ENSP00000543794.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 430,
"cds_start": 89,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873735.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_001329113.2",
"protein_id": "NP_001316042.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 415,
"cds_start": 89,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329113.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_004899.5",
"protein_id": "NP_004890.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 415,
"cds_start": 89,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004899.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000344773.6",
"protein_id": "ENSP00000343412.2",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 415,
"cds_start": 89,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344773.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000873731.1",
"protein_id": "ENSP00000543790.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 407,
"cds_start": 89,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873731.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_001329112.1",
"protein_id": "NP_001316041.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329112.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "NM_199194.3",
"protein_id": "NP_954664.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199194.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000918537.1",
"protein_id": "ENSP00000588596.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918537.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000968061.1",
"protein_id": "ENSP00000638120.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968061.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000968062.1",
"protein_id": "ENSP00000638121.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968062.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000968063.1",
"protein_id": "ENSP00000638122.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968063.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000968065.1",
"protein_id": "ENSP00000638124.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968065.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BABAM2",
"gene_hgnc_id": 1106,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly",
"transcript": "ENST00000968066.1",
"protein_id": "ENSP00000638125.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 383,
"cds_start": 89,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968066.1"
},
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"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.752137303352356,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.4536,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.714,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.35,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001329114.2",
"gene_symbol": "BABAM2",
"hgnc_id": 1106,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Asp30Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000448427.1",
"gene_symbol": "MRPL33",
"hgnc_id": 14487,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.*67A>G",
"hgvs_p": null
}
],
"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
}