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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: 7-92200795-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92200795&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KRIT1",
"hgnc_id": 1573,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_004912.4",
"verdict": "Benign"
},
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285953",
"hgnc_id": null,
"hgvs_c": "c.2025+12400G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -3,
"transcript": "ENST00000458493.6",
"verdict": "Likely_benign"
},
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000289027",
"hgnc_id": null,
"hgvs_c": "c.2025+12400G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -3,
"transcript": "ENST00000692281.1",
"verdict": "Likely_benign"
},
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000243107",
"hgnc_id": null,
"hgvs_c": "n.1161-353G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -3,
"transcript": "ENST00000414227.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_score": -11,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.4651,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cerebral cavernous malformation,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08733335137367249,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_194454.3",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394505.7",
"protein_coding": true,
"protein_id": "NP_919436.1",
"strand": false,
"transcript": "NM_194454.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000394505.7",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194454.3",
"protein_coding": true,
"protein_id": "ENSP00000378013.2",
"strand": false,
"transcript": "ENST00000394505.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000340022.6",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344668.2",
"strand": false,
"transcript": "ENST00000340022.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000412043.6",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410909.2",
"strand": false,
"transcript": "ENST00000412043.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4208,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000458177.7",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391675.2",
"strand": false,
"transcript": "ENST00000458177.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000692281.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289027",
"hgvs_c": "c.2025+12400G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510568.1",
"strand": false,
"transcript": "ENST00000692281.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 896,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": null,
"cds_end": null,
"cds_length": 2691,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458493.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285953",
"hgvs_c": "c.2025+12400G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396352.2",
"strand": false,
"transcript": "ENST00000458493.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000475770.6",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "n.2598G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000475770.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000486261.5",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "n.2675G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000486261.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1589,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414227.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000243107",
"hgvs_c": "n.1161-353G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000414227.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001350672.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337601.1",
"strand": false,
"transcript": "NM_001350672.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 736,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4445,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001350673.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337602.1",
"strand": false,
"transcript": "NM_001350673.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 2848,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001350674.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337603.1",
"strand": false,
"transcript": "NM_001350674.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001350675.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337604.1",
"strand": false,
"transcript": "NM_001350675.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001350676.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337605.1",
"strand": false,
"transcript": "NM_001350676.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 2518,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001350677.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337606.1",
"strand": false,
"transcript": "NM_001350677.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001350678.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337607.1",
"strand": false,
"transcript": "NM_001350678.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": 2681,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001350679.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337608.1",
"strand": false,
"transcript": "NM_001350679.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 2561,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001350680.1",
"gene_hgnc_id": 1573,
"gene_symbol": "KRIT1",
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Val718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337609.1",
"strand": false,
"transcript": "NM_001350680.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 736,
"aa_ref": "V",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 2211,
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