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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: 13-23320728-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23320728&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SGCG",
"hgnc_id": 10809,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Met242Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001378244.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SACS",
"hgnc_id": 10519,
"hgvs_c": "c.2186-8613T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000682775.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107984585",
"hgnc_id": null,
"hgvs_c": "n.2808+838T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_001749787.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 64,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1259,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2C",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4505833387374878,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 767,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000231.3",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000218867.4",
"protein_coding": true,
"protein_id": "NP_000222.2",
"strand": true,
"transcript": "NM_000231.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 767,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000218867.4",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000231.3",
"protein_coding": true,
"protein_id": "ENSP00000218867.3",
"strand": true,
"transcript": "ENST00000218867.4",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 351,
"aa_ref": "M",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1056,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942469.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Met284Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612528.1",
"strand": true,
"transcript": "ENST00000942469.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 309,
"aa_ref": "M",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 809,
"cds_end": null,
"cds_length": 930,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001378244.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Met242Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365173.1",
"strand": true,
"transcript": "NM_001378244.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 869,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378245.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365174.1",
"strand": true,
"transcript": "NM_001378245.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 918,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378246.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365175.1",
"strand": true,
"transcript": "NM_001378246.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 993,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876364.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546423.1",
"strand": true,
"transcript": "ENST00000876364.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 717,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000876365.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546424.1",
"strand": true,
"transcript": "ENST00000876365.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 824,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876366.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546425.1",
"strand": true,
"transcript": "ENST00000876366.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 928,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942466.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612525.1",
"strand": true,
"transcript": "ENST00000942466.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 964,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942467.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612526.1",
"strand": true,
"transcript": "ENST00000942467.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 915,
"cds_end": null,
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"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942468.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612527.1",
"strand": true,
"transcript": "ENST00000942468.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "M",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 981,
"cds_end": null,
"cds_length": 876,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942471.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Met224Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612530.1",
"strand": true,
"transcript": "ENST00000942471.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 251,
"aa_ref": "M",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 633,
"cds_end": null,
"cds_length": 756,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876367.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Met184Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546426.1",
"strand": true,
"transcript": "ENST00000876367.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 251,
"aa_ref": "M",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 798,
"cds_end": null,
"cds_length": 756,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942470.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Met184Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612529.1",
"strand": true,
"transcript": "ENST00000942470.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 244,
"aa_ref": "M",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 614,
"cds_end": null,
"cds_length": 735,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047430542.1",
"gene_hgnc_id": 10809,
"gene_symbol": "SGCG",
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Met177Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286498.1",
"strand": true,
"transcript": "XM_047430542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682775.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.2186-8613T>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508399.1",
"strand": false,
"transcript": "ENST00000682775.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 738,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": null,
"cds_end": null,
"cds_length": 2217,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683210.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.2186-31485T>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506739.1",
"strand": false,
"transcript": "ENST00000683210.1",
"transcript_support_level": null
},
{
"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": 4333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684325.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "n.*104+838T>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508121.1",
"strand": false,
"transcript": "ENST00000684325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001749787.2",
"gene_hgnc_id": null,
"gene_symbol": "LOC107984585",
"hgvs_c": "n.2808+838T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001749787.2",
"transcript_support_level": null
}
],
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"dbsnp": "rs372188878",
"effect": "missense_variant",
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"gene_symbol": "SGCG",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2C",
"phylop100way_prediction": "Benign",
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"pos": 23320728,
"ref": "A",
"revel_prediction": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001378244.1"
}
]
}