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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: 1-62495648-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62495648&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DOCK7",
"hgnc_id": 19190,
"hgvs_c": "c.4957C>A",
"hgvs_p": "p.Leu1653Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001367561.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.956,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6088761687278748,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2140,
"aa_ref": "L",
"aa_start": 1653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 5079,
"cds_end": null,
"cds_length": 6423,
"cds_start": 4957,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001367561.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4957C>A",
"hgvs_p": "p.Leu1653Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000635253.2",
"protein_coding": true,
"protein_id": "NP_001354490.1",
"strand": false,
"transcript": "NM_001367561.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2140,
"aa_ref": "L",
"aa_start": 1653,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 5079,
"cds_end": null,
"cds_length": 6423,
"cds_start": 4957,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000635253.2",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4957C>A",
"hgvs_p": "p.Leu1653Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367561.1",
"protein_coding": true,
"protein_id": "ENSP00000489124.1",
"strand": false,
"transcript": "ENST00000635253.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2129,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6985,
"cdna_start": 4941,
"cds_end": null,
"cds_length": 6390,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000454575.6",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4930C>A",
"hgvs_p": "p.Leu1644Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413583.2",
"strand": false,
"transcript": "ENST00000454575.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "L",
"aa_start": 1653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6929,
"cdna_start": 5066,
"cds_end": null,
"cds_length": 6417,
"cds_start": 4957,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000912940.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4957C>A",
"hgvs_p": "p.Leu1653Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582999.1",
"strand": false,
"transcript": "ENST00000912940.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2131,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7206,
"cdna_start": 5052,
"cds_end": null,
"cds_length": 6396,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001330614.2",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4930C>A",
"hgvs_p": "p.Leu1644Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317543.1",
"strand": false,
"transcript": "NM_001330614.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2131,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 4930,
"cds_end": null,
"cds_length": 6396,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000251157.10",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4930C>A",
"hgvs_p": "p.Leu1644Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000251157.6",
"strand": false,
"transcript": "ENST00000251157.10",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2129,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7200,
"cdna_start": 5052,
"cds_end": null,
"cds_length": 6390,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001271999.2",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4930C>A",
"hgvs_p": "p.Leu1644Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258928.1",
"strand": false,
"transcript": "NM_001271999.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2126,
"aa_ref": "L",
"aa_start": 1644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6893,
"cdna_start": 5039,
"cds_end": null,
"cds_length": 6381,
"cds_start": 4930,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000912941.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4930C>A",
"hgvs_p": "p.Leu1644Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583000.1",
"strand": false,
"transcript": "ENST00000912941.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2109,
"aa_ref": "L",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7140,
"cdna_start": 4986,
"cds_end": null,
"cds_length": 6330,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_033407.4",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4864C>A",
"hgvs_p": "p.Leu1622Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_212132.2",
"strand": false,
"transcript": "NM_033407.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2109,
"aa_ref": "L",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6731,
"cdna_start": 4864,
"cds_end": null,
"cds_length": 6330,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000340370.10",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4864C>A",
"hgvs_p": "p.Leu1622Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340742.5",
"strand": false,
"transcript": "ENST00000340370.10",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2107,
"aa_ref": "L",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 5064,
"cds_end": null,
"cds_length": 6324,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000895032.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4864C>A",
"hgvs_p": "p.Leu1622Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565091.1",
"strand": false,
"transcript": "ENST00000895032.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6839,
"cdna_start": 4991,
"cds_end": null,
"cds_length": 6315,
"cds_start": 4864,
"consequences": [
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],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000912939.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4864C>A",
"hgvs_p": "p.Leu1622Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582998.1",
"strand": false,
"transcript": "ENST00000912939.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_length": 6804,
"cdna_start": 4926,
"cds_end": null,
"cds_length": 6312,
"cds_start": 4837,
"consequences": [
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],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000941402.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4837C>A",
"hgvs_p": "p.Leu1613Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611461.1",
"strand": false,
"transcript": "ENST00000941402.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2100,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7113,
"cdna_start": 4959,
"cds_end": null,
"cds_length": 6303,
"cds_start": 4837,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001272000.2",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4837C>A",
"hgvs_p": "p.Leu1613Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258929.1",
"strand": false,
"transcript": "NM_001272000.2",
"transcript_support_level": null
},
{
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"cdna_start": 4837,
"cds_end": null,
"cds_length": 6303,
"cds_start": 4837,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000634264.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4837C>A",
"hgvs_p": "p.Leu1613Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489284.1",
"strand": false,
"transcript": "ENST00000634264.1",
"transcript_support_level": 5
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7107,
"cdna_start": 4959,
"cds_end": null,
"cds_length": 6297,
"cds_start": 4837,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001272001.2",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4837C>A",
"hgvs_p": "p.Leu1613Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258930.1",
"strand": false,
"transcript": "NM_001272001.2",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4837,
"cds_end": null,
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"consequences": [
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],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000635123.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4837C>A",
"hgvs_p": "p.Leu1613Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000489499.1",
"strand": false,
"transcript": "ENST00000635123.1",
"transcript_support_level": 5
},
{
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"cdna_start": 4964,
"cds_end": null,
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"cds_start": 4837,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000912938.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4837C>A",
"hgvs_p": "p.Leu1613Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582997.1",
"strand": false,
"transcript": "ENST00000912938.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 7080,
"cdna_start": 4934,
"cds_end": null,
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"cds_start": 4825,
"consequences": [
"missense_variant"
],
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"exon_rank": 38,
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"feature": "ENST00000895031.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4825C>A",
"hgvs_p": "p.Leu1609Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565090.1",
"strand": false,
"transcript": "ENST00000895031.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2085,
"aa_ref": "L",
"aa_start": 1600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6831,
"cdna_start": 4968,
"cds_end": null,
"cds_length": 6258,
"cds_start": 4798,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000895033.1",
"gene_hgnc_id": 19190,
"gene_symbol": "DOCK7",
"hgvs_c": "c.4798C>A",
"hgvs_p": "p.Leu1600Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565092.1",
"strand": false,
"transcript": "ENST00000895033.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2021,
"aa_ref": "L",
"aa_start": 1536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6538,
"cdna_start": 4679,
"cds_end": null,
"cds_length": 6066,
"cds_start": 4606,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 36,
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