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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: 13-23250679-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23250679&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23250679,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378244.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "NM_000231.3",
"protein_id": "NP_000222.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000218867.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000231.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000218867.4",
"protein_id": "ENSP00000218867.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000231.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218867.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000942469.1",
"protein_id": "ENSP00000612528.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 351,
"cds_start": 347,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942469.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134His",
"transcript": "NM_001378244.1",
"protein_id": "NP_001365173.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 309,
"cds_start": 401,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378244.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "NM_001378245.1",
"protein_id": "NP_001365174.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378245.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "NM_001378246.1",
"protein_id": "NP_001365175.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378246.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000876364.1",
"protein_id": "ENSP00000546423.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876364.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000876365.1",
"protein_id": "ENSP00000546424.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876365.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000876366.1",
"protein_id": "ENSP00000546425.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876366.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000942466.1",
"protein_id": "ENSP00000612525.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942466.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000942467.1",
"protein_id": "ENSP00000612526.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942467.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000942468.1",
"protein_id": "ENSP00000612527.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942468.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000942471.1",
"protein_id": "ENSP00000612530.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942471.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000876367.1",
"protein_id": "ENSP00000546426.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 251,
"cds_start": 347,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Arg116His",
"transcript": "ENST00000942470.1",
"protein_id": "ENSP00000612529.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 251,
"cds_start": 347,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942470.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "XM_047430542.1",
"protein_id": "XP_047286498.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 244,
"cds_start": 206,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430542.1"
}
],
"gene_symbol": "SGCG",
"gene_hgnc_id": 10809,
"dbsnp": "rs17314986",
"frequency_reference_population": 0.123202376,
"hom_count_reference_population": 13280,
"allele_count_reference_population": 198481,
"gnomad_exomes_af": 0.125551,
"gnomad_genomes_af": 0.100689,
"gnomad_exomes_ac": 183159,
"gnomad_genomes_ac": 15322,
"gnomad_exomes_homalt": 12307,
"gnomad_genomes_homalt": 973,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0036991536617279053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.375,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1379,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.164,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001378244.1",
"gene_symbol": "SGCG",
"hgnc_id": 10809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134His"
}
],
"clinvar_disease": " recessive,Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2C,Limb-girdle muscular dystrophy,Sarcoglycanopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:3 B:11",
"phenotype_combined": "not provided|not specified|Autosomal recessive limb-girdle muscular dystrophy type 2C|Sarcoglycanopathy|Limb-girdle muscular dystrophy, recessive|Autosomal recessive limb-girdle muscular dystrophy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}