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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: 14-22813250-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=22813250&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC7A7",
"hgnc_id": 11065,
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_003982.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9859,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "14",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Lysinuric protein intolerance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9718960523605347,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003982.4",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674313.1",
"protein_coding": true,
"protein_id": "NP_003973.3",
"strand": false,
"transcript": "NM_003982.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000674313.1",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003982.4",
"protein_coding": true,
"protein_id": "ENSP00000501493.1",
"strand": false,
"transcript": "ENST00000674313.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397528.8",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380662.4",
"strand": false,
"transcript": "ENST00000397528.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000397529.6",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380663.2",
"strand": false,
"transcript": "ENST00000397529.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000397532.9",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380666.4",
"strand": false,
"transcript": "ENST00000397532.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555702.5",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451881.1",
"strand": false,
"transcript": "ENST00000555702.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001126105.3",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119577.1",
"strand": false,
"transcript": "NM_001126105.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001126106.4",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119578.1",
"strand": false,
"transcript": "NM_001126106.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000285850.11",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000285850.7",
"strand": false,
"transcript": "ENST00000285850.11",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000555911.2",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452551.2",
"strand": false,
"transcript": "ENST00000555911.2",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 222,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894387.1",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564446.1",
"strand": false,
"transcript": "ENST00000894387.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941692.1",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611751.1",
"strand": false,
"transcript": "ENST00000941692.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 163,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": 375,
"cds_end": null,
"cds_length": 494,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000554758.1",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450671.1",
"strand": false,
"transcript": "ENST00000554758.1",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 572,
"cds_end": null,
"cds_length": 424,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000488800.5",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421554.1",
"strand": false,
"transcript": "ENST00000488800.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 121,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 519,
"cdna_start": 301,
"cds_end": null,
"cds_length": 367,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000555251.1",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451983.1",
"strand": false,
"transcript": "ENST00000555251.1",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 115,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 368,
"cds_end": null,
"cds_length": 350,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000557629.5",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450495.1",
"strand": false,
"transcript": "ENST00000557629.5",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 105,
"aa_ref": "M",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 401,
"cds_end": null,
"cds_length": 320,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000557129.5",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450729.1",
"strand": false,
"transcript": "ENST00000557129.5",
"transcript_support_level": 4
},
{
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"aa_end": null,
"aa_length": 511,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 345,
"cds_end": null,
"cds_length": 1536,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011537299.2",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.149T>A",
"hgvs_p": "p.Met50Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535601.1",
"strand": false,
"transcript": "XM_011537299.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554517.5",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "c.-300+6388T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452083.1",
"strand": false,
"transcript": "ENST00000554517.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000556287.5",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "n.149T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450715.1",
"strand": false,
"transcript": "ENST00000556287.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698939.1",
"gene_hgnc_id": 11065,
"gene_symbol": "SLC7A7",
"hgvs_c": "n.149T>A",
"hgvs_p": null,
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}