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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: 18-36145968-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36145968&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36145968,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242875.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Met",
"transcript": "NM_018255.4",
"protein_id": "NP_060725.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 826,
"cds_start": 913,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358232.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018255.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Met",
"transcript": "ENST00000358232.11",
"protein_id": "ENSP00000350967.6",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 826,
"cds_start": 913,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018255.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358232.11"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Val235Met",
"transcript": "ENST00000423854.6",
"protein_id": "ENSP00000391202.2",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 756,
"cds_start": 703,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423854.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Met",
"transcript": "ENST00000542824.5",
"protein_id": "ENSP00000443800.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 756,
"cds_start": 835,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542824.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.913G>A",
"hgvs_p": null,
"transcript": "ENST00000539560.5",
"protein_id": "ENSP00000443555.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539560.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Val377Met",
"transcript": "ENST00000867817.1",
"protein_id": "ENSP00000537876.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 898,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867817.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"transcript": "NM_001242875.3",
"protein_id": "NP_001229804.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 891,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242875.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"transcript": "ENST00000442325.6",
"protein_id": "ENSP00000414851.2",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 891,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442325.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"transcript": "ENST00000867807.1",
"protein_id": "ENSP00000537866.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 889,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867807.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Val364Met",
"transcript": "ENST00000965732.1",
"protein_id": "ENSP00000635791.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 885,
"cds_start": 1090,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965732.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Met",
"transcript": "NM_001324466.2",
"protein_id": "NP_001311395.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 865,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324466.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Met",
"transcript": "ENST00000867812.1",
"protein_id": "ENSP00000537871.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 865,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867812.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Met",
"transcript": "ENST00000965733.1",
"protein_id": "ENSP00000635792.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 853,
"cds_start": 994,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965733.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"transcript": "ENST00000867816.1",
"protein_id": "ENSP00000537875.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 847,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867816.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Val326Met",
"transcript": "ENST00000867822.1",
"protein_id": "ENSP00000537881.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 847,
"cds_start": 976,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867822.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Met",
"transcript": "ENST00000965728.1",
"protein_id": "ENSP00000635787.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 845,
"cds_start": 913,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965728.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"transcript": "ENST00000867805.1",
"protein_id": "ENSP00000537864.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 841,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867805.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Met",
"transcript": "ENST00000939573.1",
"protein_id": "ENSP00000609632.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 833,
"cds_start": 934,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939573.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met",
"transcript": "ENST00000867821.1",
"protein_id": "ENSP00000537880.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 829,
"cds_start": 1108,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867821.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Met",
"transcript": "ENST00000867806.1",
"protein_id": "ENSP00000537865.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 824,
"cds_start": 913,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867806.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Val303Met",
"transcript": "ENST00000867814.1",
"protein_id": "ENSP00000537873.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 824,
"cds_start": 907,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867814.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Met",
"transcript": "ENST00000867815.1",
"protein_id": "ENSP00000537874.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 823,
"cds_start": 913,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
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"revel_prediction": "Benign",
"alphamissense_score": 0.0618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.286,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001242875.3",
"gene_symbol": "ELP2",
"hgnc_id": 18248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}