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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: 7-92241100-ACTTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92241100&ref=ACTTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92241100,
"ref": "ACTTT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000394505.7",
"consequences": [
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_194454.3",
"protein_id": "NP_919436.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000394505.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000394505.7",
"protein_id": "ENSP00000378013.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_194454.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289027",
"gene_hgnc_id": null,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000692281.1",
"protein_id": "ENSP00000510568.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 1120,
"cds_start": 151,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000458493.6",
"protein_id": "ENSP00000396352.2",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 896,
"cds_start": 151,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000340022.6",
"protein_id": "ENSP00000344668.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000412043.6",
"protein_id": "ENSP00000410909.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000458177.7",
"protein_id": "ENSP00000391675.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.16_19delAAAG",
"hgvs_p": null,
"transcript": "ENST00000486261.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000650585.2",
"protein_id": "ENSP00000498010.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 799,
"cds_start": 151,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "ENST00000691972.1",
"protein_id": "ENSP00000510591.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 799,
"cds_start": 151,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350672.1",
"protein_id": "NP_001337601.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350673.1",
"protein_id": "NP_001337602.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350674.1",
"protein_id": "NP_001337603.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350675.1",
"protein_id": "NP_001337604.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350676.1",
"protein_id": "NP_001337605.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350677.1",
"protein_id": "NP_001337606.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
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"cdna_start": 520,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350678.1",
"protein_id": "NP_001337607.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350679.1",
"protein_id": "NP_001337608.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350680.1",
"protein_id": "NP_001337609.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
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"cdna_start": 563,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350681.1",
"protein_id": "NP_001337610.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350682.1",
"protein_id": "NP_001337611.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs",
"transcript": "NM_001350683.1",
"protein_id": "NP_001337612.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 736,
"cds_start": 151,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.027,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394505.7",
"gene_symbol": "KRIT1",
"hgnc_id": 1573,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000458493.6",
"gene_symbol": "ENSG00000285953",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000692281.1",
"gene_symbol": "ENSG00000289027",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.151_154delAAAG",
"hgvs_p": "p.Lys51fs"
}
],
"clinvar_disease": "Cerebral cavernous malformation,Cerebral cavernous malformation 1,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "not provided|Cerebral cavernous malformation|Cerebral cavernous malformation 1|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}