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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: 15-89645125-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89645125&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KIF7",
"hgnc_id": 30497,
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_198525.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_score": -4,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "15",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Acrocallosal syndrome",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "V",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 4032,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_198525.3",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394412.8",
"protein_coding": true,
"protein_id": "NP_940927.2",
"strand": false,
"transcript": "NM_198525.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "V",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 4032,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000394412.8",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198525.3",
"protein_coding": true,
"protein_id": "ENSP00000377934.3",
"strand": false,
"transcript": "ENST00000394412.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1384,
"aa_ref": "V",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 4155,
"cds_start": 2202,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696512.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2202C>T",
"hgvs_p": "p.Val734Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512678.1",
"strand": false,
"transcript": "ENST00000696512.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "V",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 4044,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946200.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2091C>T",
"hgvs_p": "p.Val697Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616259.1",
"strand": false,
"transcript": "ENST00000946200.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "V",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 4032,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896349.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566408.1",
"strand": false,
"transcript": "ENST00000896349.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": 2275,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896344.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566403.1",
"strand": false,
"transcript": "ENST00000896344.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 2348,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896345.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566404.1",
"strand": false,
"transcript": "ENST00000896345.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896346.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566405.1",
"strand": false,
"transcript": "ENST00000896346.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896348.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566407.1",
"strand": false,
"transcript": "ENST00000896348.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "V",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929691.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599750.1",
"strand": false,
"transcript": "ENST00000929691.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929694.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599753.1",
"strand": false,
"transcript": "ENST00000929694.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1342,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946199.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616258.1",
"strand": false,
"transcript": "ENST00000946199.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1342,
"aa_ref": "V",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946201.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616260.1",
"strand": false,
"transcript": "ENST00000946201.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "V",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 4026,
"cds_start": 2073,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896347.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2073C>T",
"hgvs_p": "p.Val691Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566406.1",
"strand": false,
"transcript": "ENST00000896347.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1341,
"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 4026,
"cds_start": 2073,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929695.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2073C>T",
"hgvs_p": "p.Val691Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599754.1",
"strand": false,
"transcript": "ENST00000929695.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1341,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 4026,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946205.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616264.1",
"strand": false,
"transcript": "ENST00000946205.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "V",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2070,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946206.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2070C>T",
"hgvs_p": "p.Val690Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616265.1",
"strand": false,
"transcript": "ENST00000946206.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 4005,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929693.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2079C>T",
"hgvs_p": "p.Val693Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599752.1",
"strand": false,
"transcript": "ENST00000929693.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1333,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 4002,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000929697.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599756.1",
"strand": false,
"transcript": "ENST00000929697.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "V",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 3972,
"cds_start": 2076,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946203.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Val692Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616262.1",
"strand": false,
"transcript": "ENST00000946203.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1322,
"aa_ref": "V",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 3969,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
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