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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: 6-24777262-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24777262&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "GMNN",
"hgnc_id": 17493,
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_015895.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Meier-Gorlin syndrome,Meier-Gorlin syndrome 6",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 349,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_015895.5",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230056.8",
"protein_coding": true,
"protein_id": "NP_056979.1",
"strand": true,
"transcript": "NM_015895.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 349,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000230056.8",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015895.5",
"protein_coding": true,
"protein_id": "ENSP00000230056.3",
"strand": true,
"transcript": "ENST00000230056.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 226,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 362,
"cds_end": null,
"cds_length": 681,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931913.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601972.1",
"strand": true,
"transcript": "ENST00000931913.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 217,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001251989.2",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238918.1",
"strand": true,
"transcript": "NM_001251989.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 141,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001251990.2",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238919.1",
"strand": true,
"transcript": "NM_001251990.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": 131,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001251991.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238920.1",
"strand": true,
"transcript": "NM_001251991.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 223,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000356509.7",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348902.3",
"strand": true,
"transcript": "ENST00000356509.7",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1039,
"cdna_start": 131,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000620958.4",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477506.1",
"strand": true,
"transcript": "ENST00000620958.4",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 439,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931907.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601966.1",
"strand": true,
"transcript": "ENST00000931907.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1081,
"cdna_start": 163,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931908.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601967.1",
"strand": true,
"transcript": "ENST00000931908.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 263,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931910.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601969.1",
"strand": true,
"transcript": "ENST00000931910.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 490,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931916.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601975.1",
"strand": true,
"transcript": "ENST00000931916.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 235,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931917.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601976.1",
"strand": true,
"transcript": "ENST00000931917.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 209,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1136,
"cdna_start": 274,
"cds_end": null,
"cds_length": 630,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000960430.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630489.1",
"strand": true,
"transcript": "ENST00000960430.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 197,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": 321,
"cds_end": null,
"cds_length": 594,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931915.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601974.1",
"strand": true,
"transcript": "ENST00000931915.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 193,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 141,
"cds_end": null,
"cds_length": 582,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931914.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601973.1",
"strand": true,
"transcript": "ENST00000931914.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 183,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 330,
"cds_end": null,
"cds_length": 552,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931912.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601971.1",
"strand": true,
"transcript": "ENST00000931912.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 178,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": 131,
"cds_end": null,
"cds_length": 538,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378054.6",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367293.2",
"strand": true,
"transcript": "ENST00000378054.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 172,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 210,
"cds_end": null,
"cds_length": 519,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863462.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533521.1",
"strand": true,
"transcript": "ENST00000863462.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 172,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 359,
"cds_end": null,
"cds_length": 519,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931909.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601968.1",
"strand": true,
"transcript": "ENST00000931909.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 172,
"aa_ref": "K",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 262,
"cds_end": null,
"cds_length": 519,
"cds_start": 16,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931911.1",
"gene_hgnc_id": 17493,
"gene_symbol": "GMNN",
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Lys6*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601970.1",
"strand": true,
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