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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: 2-127873991-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127873991&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AMMECR1L",
"hgnc_id": 28658,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001410953.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intragenic_variant"
],
"gene_symbol": "LOC107985803",
"hgnc_id": null,
"hgvs_c": "n.127873991C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 18739,
"alphamissense_prediction": null,
"alphamissense_score": 0.0794,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004755556583404541,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 539,
"cds_end": null,
"cds_length": 933,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199140.2",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272647.10",
"protein_coding": true,
"protein_id": "NP_001186069.1",
"strand": false,
"transcript": "NM_001199140.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 539,
"cds_end": null,
"cds_length": 933,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000272647.10",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001199140.2",
"protein_coding": true,
"protein_id": "ENSP00000272647.6",
"strand": false,
"transcript": "ENST00000272647.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 495,
"cds_end": null,
"cds_length": 933,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000393001.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376726.1",
"strand": false,
"transcript": "ENST00000393001.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 355,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4827,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1068,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410953.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397882.1",
"strand": false,
"transcript": "NM_001410953.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 355,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4756,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1068,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000681844.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505104.1",
"strand": false,
"transcript": "ENST00000681844.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 350,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 487,
"cds_end": null,
"cds_length": 1053,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680603.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506318.1",
"strand": false,
"transcript": "ENST00000680603.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 310,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 495,
"cds_end": null,
"cds_length": 933,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_031445.2",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_113633.2",
"strand": false,
"transcript": "NM_031445.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 539,
"cds_end": null,
"cds_length": 849,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000681549.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505095.1",
"strand": false,
"transcript": "ENST00000681549.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 273,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4581,
"cdna_start": 539,
"cds_end": null,
"cds_length": 822,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410954.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397883.1",
"strand": false,
"transcript": "NM_001410954.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 273,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 544,
"cds_end": null,
"cds_length": 822,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680886.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505606.1",
"strand": false,
"transcript": "ENST00000680886.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 318,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4716,
"cdna_start": 539,
"cds_end": null,
"cds_length": 957,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005263806.6",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263863.1",
"strand": false,
"transcript": "XM_005263806.6",
"transcript_support_level": null
},
{
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"aa_length": 236,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1071,
"cdna_start": 539,
"cds_end": null,
"cds_length": 711,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047445956.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301912.1",
"strand": false,
"transcript": "XM_047445956.1",
"transcript_support_level": null
},
{
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"aa_length": 189,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 898,
"cdna_start": 539,
"cds_end": null,
"cds_length": 570,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011511956.4",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510258.1",
"strand": false,
"transcript": "XM_011511956.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 173,
"aa_ref": "A",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 904,
"cdna_start": 539,
"cds_end": null,
"cds_length": 522,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017005063.3",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Ala82Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860552.1",
"strand": false,
"transcript": "XM_017005063.3",
"transcript_support_level": null
},
{
"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": 4349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679574.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "n.244G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506697.1",
"strand": false,
"transcript": "ENST00000679574.1",
"transcript_support_level": null
},
{
"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": 4784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679797.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "n.244G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505986.1",
"strand": false,
"transcript": "ENST00000679797.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680045.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "n.244G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506104.1",
"strand": false,
"transcript": "ENST00000680045.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680145.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "n.244G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506553.1",
"strand": false,
"transcript": "ENST00000680145.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680246.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "n.244G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505484.1",
"strand": false,
"transcript": "ENST00000680246.1",
"transcript_support_level": null
},
{
"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": 4785,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680431.1",
"gene_hgnc_id": 28658,
"gene_symbol": "AMMECR1L",
"hgvs_c": "n.244G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505675.1",
"strand": false,
"transcript": "ENST00000680431.1",
"transcript_support_level": null
},
{
"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": 4803,
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]
}