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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: 10-68487202-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68487202&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC25A16",
"hgnc_id": 10986,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_152707.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9946,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9218437671661377,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6581,
"cdna_start": 932,
"cds_end": null,
"cds_length": 999,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_152707.4",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000609923.6",
"protein_coding": true,
"protein_id": "NP_689920.1",
"strand": false,
"transcript": "NM_152707.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6581,
"cdna_start": 932,
"cds_end": null,
"cds_length": 999,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000609923.6",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152707.4",
"protein_coding": true,
"protein_id": "ENSP00000476815.1",
"strand": false,
"transcript": "ENST00000609923.6",
"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": 1121,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000493963.5",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "n.*712G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476283.1",
"strand": false,
"transcript": "ENST00000493963.5",
"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": 1121,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000493963.5",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "n.*712G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476283.1",
"strand": false,
"transcript": "ENST00000493963.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 335,
"aa_ref": "D",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1008,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966724.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Asp265Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636783.1",
"strand": false,
"transcript": "ENST00000966724.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 932,
"cds_end": null,
"cds_length": 999,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000873655.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543714.1",
"strand": false,
"transcript": "ENST00000873655.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 315,
"aa_ref": "D",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 932,
"cds_end": null,
"cds_length": 948,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001324312.2",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311241.1",
"strand": false,
"transcript": "NM_001324312.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 301,
"aa_ref": "D",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 776,
"cds_end": null,
"cds_length": 906,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966726.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Asp231Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636785.1",
"strand": false,
"transcript": "ENST00000966726.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 282,
"aa_ref": "D",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 719,
"cds_end": null,
"cds_length": 849,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966725.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Asp212Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636784.1",
"strand": false,
"transcript": "ENST00000966725.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 281,
"aa_ref": "D",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 932,
"cds_end": null,
"cds_length": 846,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001324313.2",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311242.1",
"strand": false,
"transcript": "NM_001324313.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 269,
"aa_ref": "D",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 743,
"cds_end": null,
"cds_length": 810,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000873656.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543715.1",
"strand": false,
"transcript": "ENST00000873656.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 234,
"aa_ref": "D",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6763,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 705,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001324314.2",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Asp164Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311243.1",
"strand": false,
"transcript": "NM_001324314.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 234,
"aa_ref": "D",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 705,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001324315.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Asp164Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311244.1",
"strand": false,
"transcript": "NM_001324315.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 198,
"aa_ref": "D",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6447,
"cdna_start": 798,
"cds_end": null,
"cds_length": 597,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324317.2",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311246.1",
"strand": false,
"transcript": "NM_001324317.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 170,
"aa_ref": "D",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 359,
"cds_end": null,
"cds_length": 513,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000873657.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543716.1",
"strand": false,
"transcript": "ENST00000873657.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 64,
"aa_ref": "D",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 263,
"cdna_start": 135,
"cds_end": null,
"cds_length": 195,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000608053.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Asp45Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477328.1",
"strand": false,
"transcript": "ENST00000608053.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000265870.7",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "n.1667G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000265870.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_136737.1",
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"hgvs_c": "n.1667G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_136737.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2052579132",
"effect": "missense_variant",
"frequency_reference_population": 6.8432314e-7,
"gene_hgnc_id": 10986,
"gene_symbol": "SLC25A16",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84323e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.496,
"pos": 68487202,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.788,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_152707.4"
}
]
}