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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: 12-95987153-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95987153&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HAL",
"hgnc_id": 4806,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002108.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.1602,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8596293926239014,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1974,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_002108.4",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261208.8",
"protein_coding": true,
"protein_id": "NP_002099.1",
"strand": false,
"transcript": "NM_002108.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3892,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1974,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000261208.8",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002108.4",
"protein_coding": true,
"protein_id": "ENSP00000261208.3",
"strand": false,
"transcript": "ENST00000261208.8",
"transcript_support_level": 1
},
{
"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": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000546999.5",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "n.*394G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447675.1",
"strand": false,
"transcript": "ENST00000546999.5",
"transcript_support_level": 1
},
{
"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": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000546999.5",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "n.*394G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447675.1",
"strand": false,
"transcript": "ENST00000546999.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1986,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865988.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536047.1",
"strand": false,
"transcript": "ENST00000865988.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1974,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865986.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536045.1",
"strand": false,
"transcript": "ENST00000865986.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1974,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865989.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536048.1",
"strand": false,
"transcript": "ENST00000865989.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1974,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865993.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536052.1",
"strand": false,
"transcript": "ENST00000865993.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 657,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3702,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1974,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000947597.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617656.1",
"strand": false,
"transcript": "ENST00000947597.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 612,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1839,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865992.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536051.1",
"strand": false,
"transcript": "ENST00000865992.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1827,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865994.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536053.1",
"strand": false,
"transcript": "ENST00000865994.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1776,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001258334.2",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245263.1",
"strand": false,
"transcript": "NM_001258334.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1776,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000538703.5",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440861.1",
"strand": false,
"transcript": "ENST00000538703.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1350,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001258333.2",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245262.1",
"strand": false,
"transcript": "NM_001258333.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1350,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000541929.5",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Arg114Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446364.1",
"strand": false,
"transcript": "ENST00000541929.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1026,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1008,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000552509.5",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450372.1",
"strand": false,
"transcript": "ENST00000552509.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1122,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011538249.3",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536551.1",
"strand": false,
"transcript": "XM_011538249.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 347,
"aa_ref": "R",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1044,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017019246.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Arg12Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874735.1",
"strand": false,
"transcript": "XM_017019246.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865987.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.903+1040G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536046.1",
"strand": false,
"transcript": "ENST00000865987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865991.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.903+1040G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536050.1",
"strand": false,
"transcript": "ENST00000865991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865995.1",
"gene_hgnc_id": 4806,
"gene_symbol": "HAL",
"hgvs_c": "c.903+1040G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536054.1",
"strand": false,
"transcript": "ENST00000865995.1",
"transcript_support_level": null
},
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