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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: 19-36010677-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36010677&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALKBH6",
"hgnc_id": 28243,
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_032878.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000248101",
"hgnc_id": null,
"hgvs_c": "n.671G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000473572.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1945,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.41160979866981506,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 407,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032878.5",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378875.8",
"protein_coding": true,
"protein_id": "NP_116267.4",
"strand": false,
"transcript": "NM_032878.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 407,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000378875.8",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032878.5",
"protein_coding": true,
"protein_id": "ENSP00000368152.4",
"strand": false,
"transcript": "ENST00000378875.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 496,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000252984.11",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000252984.6",
"strand": false,
"transcript": "ENST00000252984.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392183.7",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "n.617G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000392183.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000490986.5",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "n.*36G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435496.1",
"strand": false,
"transcript": "ENST00000490986.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000490986.5",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "n.*36G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435496.1",
"strand": false,
"transcript": "ENST00000490986.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1026,
"cdna_start": 482,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001297701.2",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284630.1",
"strand": false,
"transcript": "NM_001297701.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386055.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372984.1",
"strand": false,
"transcript": "NM_001386055.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": 471,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897810.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567869.1",
"strand": false,
"transcript": "ENST00000897810.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 391,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897811.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567870.1",
"strand": false,
"transcript": "ENST00000897811.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897812.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567871.1",
"strand": false,
"transcript": "ENST00000897812.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1001,
"cdna_start": 478,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897813.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567872.1",
"strand": false,
"transcript": "ENST00000897813.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 982,
"cdna_start": 459,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000897815.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567874.1",
"strand": false,
"transcript": "ENST00000897815.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 903,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897817.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567876.1",
"strand": false,
"transcript": "ENST00000897817.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": 491,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956212.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626271.1",
"strand": false,
"transcript": "ENST00000956212.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 238,
"aa_ref": "E",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": 445,
"cds_end": null,
"cds_length": 717,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956213.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.343G>C",
"hgvs_p": "p.Glu115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626272.1",
"strand": false,
"transcript": "ENST00000956213.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 235,
"aa_ref": "E",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 401,
"cds_end": null,
"cds_length": 708,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937861.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.334G>C",
"hgvs_p": "p.Glu112Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607920.1",
"strand": false,
"transcript": "ENST00000937861.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 215,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 873,
"cdna_start": 350,
"cds_end": null,
"cds_length": 648,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897814.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.274G>C",
"hgvs_p": "p.Glu92Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567873.1",
"strand": false,
"transcript": "ENST00000897814.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 194,
"aa_ref": "E",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": 373,
"cds_end": null,
"cds_length": 585,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000937860.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.211G>C",
"hgvs_p": "p.Glu71Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607919.1",
"strand": false,
"transcript": "ENST00000937860.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 169,
"aa_ref": "E",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": 439,
"cds_end": null,
"cds_length": 510,
"cds_start": 136,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386056.1",
"gene_hgnc_id": 28243,
"gene_symbol": "ALKBH6",
"hgvs_c": "c.136G>C",
"hgvs_p": "p.Glu46Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372985.1",
"strand": false,
"transcript": "NM_001386056.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 167,
"aa_ref": "E",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": 194,
"cds_end": null,
"cds_length": 504,
"cds_start": 130,
"consequences": [
"missense_variant"
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