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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: 9-121310819-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121310819&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GSN",
"hgnc_id": 4620,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Asp214Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000177.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.7185,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "9",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Finnish type amyloidosis,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9715996384620667,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 731,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 647,
"cds_end": null,
"cds_length": 2196,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198252.3",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000432226.7",
"protein_coding": true,
"protein_id": "NP_937895.1",
"strand": true,
"transcript": "NM_198252.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 731,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 647,
"cds_end": null,
"cds_length": 2196,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000432226.7",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198252.3",
"protein_coding": true,
"protein_id": "ENSP00000404226.2",
"strand": true,
"transcript": "ENST00000432226.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 782,
"aa_ref": "D",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 709,
"cds_end": null,
"cds_length": 2349,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000373818.8",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Asp214Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362924.4",
"strand": true,
"transcript": "ENST00000373818.8",
"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": 6454,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000485767.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "n.2449G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000485767.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 784,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 618,
"cds_end": null,
"cds_length": 2355,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900575.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570634.1",
"strand": true,
"transcript": "ENST00000900575.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 782,
"aa_ref": "D",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 671,
"cds_end": null,
"cds_length": 2349,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000177.5",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Asp214Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000168.1",
"strand": true,
"transcript": "NM_000177.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 767,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 759,
"cds_end": null,
"cds_length": 2304,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001127663.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121135.2",
"strand": true,
"transcript": "NM_001127663.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 767,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2304,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000449733.7",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409358.2",
"strand": true,
"transcript": "ENST00000449733.7",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 767,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 780,
"cds_end": null,
"cds_length": 2304,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900632.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570691.1",
"strand": true,
"transcript": "ENST00000900632.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 767,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 826,
"cds_end": null,
"cds_length": 2304,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000972572.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642631.1",
"strand": true,
"transcript": "ENST00000972572.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 767,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 750,
"cds_end": null,
"cds_length": 2304,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000972579.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642638.1",
"strand": true,
"transcript": "ENST00000972579.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 762,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 672,
"cds_end": null,
"cds_length": 2289,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900633.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570692.1",
"strand": true,
"transcript": "ENST00000900633.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 759,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 671,
"cds_end": null,
"cds_length": 2280,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900641.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570700.1",
"strand": true,
"transcript": "ENST00000900641.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 759,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 690,
"cds_end": null,
"cds_length": 2280,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000972669.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642728.1",
"strand": true,
"transcript": "ENST00000972669.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 757,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 651,
"cds_end": null,
"cds_length": 2274,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900548.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570607.1",
"strand": true,
"transcript": "ENST00000900548.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 757,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 672,
"cds_end": null,
"cds_length": 2274,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900635.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570694.1",
"strand": true,
"transcript": "ENST00000900635.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 757,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2274,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000972628.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642687.1",
"strand": true,
"transcript": "ENST00000972628.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "D",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 757,
"cds_end": null,
"cds_length": 2268,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001353076.2",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340005.1",
"strand": true,
"transcript": "NM_001353076.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "D",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 699,
"cds_end": null,
"cds_length": 2268,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000699558.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514432.1",
"strand": true,
"transcript": "ENST00000699558.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 753,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 650,
"cds_end": null,
"cds_length": 2262,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900584.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570643.1",
"strand": true,
"transcript": "ENST00000900584.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 753,
"aa_ref": "D",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 672,
"cds_end": null,
"cds_length": 2262,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900631.1",
"gene_hgnc_id": 4620,
"gene_symbol": "GSN",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
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"gene_symbol": "GSN",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000478845,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657307,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Finnish type amyloidosis|not provided|Inborn genetic diseases",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.961,
"pos": 121310819,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.532,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000177.5"
}
]
}