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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: 9-89378781-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89378781&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEMA4D",
"hgnc_id": 10732,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006378.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 85,
"alphamissense_prediction": null,
"alphamissense_score": 0.0871,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20925283432006836,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001371194.2",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000422704.7",
"protein_coding": true,
"protein_id": "NP_001358123.1",
"strand": false,
"transcript": "NM_001371194.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000422704.7",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001371194.2",
"protein_coding": true,
"protein_id": "ENSP00000388768.2",
"strand": false,
"transcript": "ENST00000422704.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 3278,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000438547.6",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405102.2",
"strand": false,
"transcript": "ENST00000438547.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 3289,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000450295.5",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416523.1",
"strand": false,
"transcript": "ENST00000450295.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001371195.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358124.1",
"strand": false,
"transcript": "NM_001371195.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 3326,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001371196.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358125.1",
"strand": false,
"transcript": "NM_001371196.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 3203,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001371197.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358126.1",
"strand": false,
"transcript": "NM_001371197.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 3278,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_006378.4",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006369.3",
"strand": false,
"transcript": "NM_006378.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4503,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000356444.6",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348822.2",
"strand": false,
"transcript": "ENST00000356444.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4704,
"cdna_start": 3160,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000858567.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528626.1",
"strand": false,
"transcript": "ENST00000858567.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4755,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000858568.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528627.1",
"strand": false,
"transcript": "ENST00000858568.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 3197,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000858569.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528628.1",
"strand": false,
"transcript": "ENST00000858569.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 2923,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858570.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528629.1",
"strand": false,
"transcript": "ENST00000858570.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 3203,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858571.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528630.1",
"strand": false,
"transcript": "ENST00000858571.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4797,
"cdna_start": 3254,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858572.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528631.1",
"strand": false,
"transcript": "ENST00000858572.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 3188,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858573.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528632.1",
"strand": false,
"transcript": "ENST00000858573.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 3318,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000858574.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528633.1",
"strand": false,
"transcript": "ENST00000858574.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 3044,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000858575.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528634.1",
"strand": false,
"transcript": "ENST00000858575.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000858576.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528635.1",
"strand": false,
"transcript": "ENST00000858576.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4614,
"cdna_start": 3068,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858577.1",
"gene_hgnc_id": 10732,
"gene_symbol": "SEMA4D",
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Asp838Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528636.1",
"strand": false,
"transcript": "ENST00000858577.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 17,
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