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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: 13-36329396-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36329396&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPART",
"hgnc_id": 18514,
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_015087.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 514,
"alphamissense_prediction": null,
"alphamissense_score": 0.1717,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Troyer syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005079805850982666,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4900,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015087.5",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438666.7",
"protein_coding": true,
"protein_id": "NP_055902.1",
"strand": false,
"transcript": "NM_015087.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4900,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000438666.7",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015087.5",
"protein_coding": true,
"protein_id": "ENSP00000406061.2",
"strand": false,
"transcript": "ENST00000438666.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4944,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000451493.5",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414147.1",
"strand": false,
"transcript": "ENST00000451493.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000494062.2",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473599.1",
"strand": false,
"transcript": "ENST00000494062.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 683,
"aa_ref": "K",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888927.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1181A>T",
"hgvs_p": "p.Lys394Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558986.1",
"strand": false,
"transcript": "ENST00000888927.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001142294.2",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135766.1",
"strand": false,
"transcript": "NM_001142294.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001142295.2",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135767.1",
"strand": false,
"transcript": "NM_001142295.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142296.2",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135768.1",
"strand": false,
"transcript": "NM_001142296.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4820,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000355182.8",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347314.4",
"strand": false,
"transcript": "ENST00000355182.8",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650221.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497209.1",
"strand": false,
"transcript": "ENST00000650221.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888906.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558965.1",
"strand": false,
"transcript": "ENST00000888906.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888908.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558967.1",
"strand": false,
"transcript": "ENST00000888908.1",
"transcript_support_level": null
},
{
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"aa_length": 666,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2818,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888909.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558968.1",
"strand": false,
"transcript": "ENST00000888909.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888910.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558969.1",
"strand": false,
"transcript": "ENST00000888910.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888912.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558971.1",
"strand": false,
"transcript": "ENST00000888912.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888913.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558972.1",
"strand": false,
"transcript": "ENST00000888913.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5009,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888914.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558973.1",
"strand": false,
"transcript": "ENST00000888914.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 666,
"aa_ref": "K",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888916.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558975.1",
"strand": false,
"transcript": "ENST00000888916.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3557,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888917.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558976.1",
"strand": false,
"transcript": "ENST00000888917.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888918.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
"hgvs_p": "p.Lys377Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558977.1",
"strand": false,
"transcript": "ENST00000888918.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888920.1",
"gene_hgnc_id": 18514,
"gene_symbol": "SPART",
"hgvs_c": "c.1130A>T",
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