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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: 9-19576939-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19576939&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19576939,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020344.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"transcript": "NM_020344.4",
"protein_id": "NP_065077.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 661,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341998.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020344.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"transcript": "ENST00000341998.7",
"protein_id": "ENSP00000344801.1",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 661,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020344.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341998.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Ala388Pro",
"transcript": "ENST00000286344.4",
"protein_id": "ENSP00000286344.3",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 644,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286344.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"transcript": "NM_001375850.1",
"protein_id": "NP_001362779.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 661,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375850.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"transcript": "ENST00000903169.1",
"protein_id": "ENSP00000573228.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 661,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903169.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"transcript": "ENST00000903171.1",
"protein_id": "ENSP00000573230.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 661,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903171.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Ala388Pro",
"transcript": "NM_001193288.3",
"protein_id": "NP_001180217.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 644,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193288.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Ala388Pro",
"transcript": "NM_001375851.1",
"protein_id": "NP_001362780.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 644,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375851.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Ala388Pro",
"transcript": "ENST00000903166.1",
"protein_id": "ENSP00000573225.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 644,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903166.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Ala375Pro",
"transcript": "ENST00000903165.1",
"protein_id": "ENSP00000573224.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 631,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903165.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Ala375Pro",
"transcript": "ENST00000903167.1",
"protein_id": "ENSP00000573226.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 631,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903167.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Ala375Pro",
"transcript": "ENST00000903168.1",
"protein_id": "ENSP00000573227.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 631,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903168.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Ala388Pro",
"transcript": "ENST00000903170.1",
"protein_id": "ENSP00000573229.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 609,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903170.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Ala375Pro",
"transcript": "ENST00000911594.1",
"protein_id": "ENSP00000581653.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 601,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911594.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro",
"transcript": "XM_017014592.2",
"protein_id": "XP_016870081.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 661,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014592.2"
}
],
"gene_symbol": "SLC24A2",
"gene_hgnc_id": 10976,
"dbsnp": "rs751391521",
"frequency_reference_population": 0.000014875916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000150567,
"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25378119945526123,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1548,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.646,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020344.4",
"gene_symbol": "SLC24A2",
"hgnc_id": 10976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Ala405Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}