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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: 7-128677718-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128677718&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": "GARIN1A",
"hgnc_id": 27998,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Leu174Val",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001012454.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5725,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8211532831192017,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5727,
"cdna_start": 599,
"cds_end": null,
"cds_length": 903,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001128926.4",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.493C>G",
"hgvs_p": "p.Leu165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682356.1",
"protein_coding": true,
"protein_id": "NP_001122398.1",
"strand": true,
"transcript": "NM_001128926.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 300,
"aa_ref": "L",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5727,
"cdna_start": 599,
"cds_end": null,
"cds_length": 903,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000682356.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.493C>G",
"hgvs_p": "p.Leu165Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128926.4",
"protein_coding": true,
"protein_id": "ENSP00000506740.1",
"strand": true,
"transcript": "ENST00000682356.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 309,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": 626,
"cds_end": null,
"cds_length": 930,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000641605.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Leu174Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493102.1",
"strand": true,
"transcript": "ENST00000641605.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 169,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 754,
"cdna_start": null,
"cds_end": null,
"cds_length": 510,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477515.3",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.365+1859C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419649.3",
"strand": true,
"transcript": "ENST00000477515.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 309,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5754,
"cdna_start": 626,
"cds_end": null,
"cds_length": 930,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001012454.6",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Leu174Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001012457.3",
"strand": true,
"transcript": "NM_001012454.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 304,
"aa_ref": "L",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1307,
"cdna_start": 622,
"cds_end": null,
"cds_length": 915,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684498.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.505C>G",
"hgvs_p": "p.Leu169Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507417.1",
"strand": true,
"transcript": "ENST00000684498.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 214,
"aa_ref": "L",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5813,
"cdna_start": 685,
"cds_end": null,
"cds_length": 645,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001290254.2",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Leu79Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277183.1",
"strand": true,
"transcript": "NM_001290254.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 214,
"aa_ref": "L",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5786,
"cdna_start": 658,
"cds_end": null,
"cds_length": 645,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001290255.2",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Leu79Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277184.1",
"strand": true,
"transcript": "NM_001290255.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000641443.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.603C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000641443.1",
"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": 1529,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000641888.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.493C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493352.1",
"strand": true,
"transcript": "ENST00000641888.1",
"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": 1582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000641987.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.493C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493021.1",
"strand": true,
"transcript": "ENST00000641987.1",
"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": 1250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682361.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.*194C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507180.1",
"strand": true,
"transcript": "ENST00000682361.1",
"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": 1429,
"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": "ENST00000683523.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.*478C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507391.1",
"strand": true,
"transcript": "ENST00000683523.1",
"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": 2848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684390.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.235C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508360.1",
"strand": true,
"transcript": "ENST00000684390.1",
"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": 1125,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000684742.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.*366C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508054.1",
"strand": true,
"transcript": "ENST00000684742.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007060021.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.626C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060021.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007060022.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.626C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007060023.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.626C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007060024.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.626C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007060025.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.626C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007060026.1",
"gene_hgnc_id": 27998,
"gene_symbol": "GARIN1A",
"hgvs_c": "n.626C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007060026.1",
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